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1. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Author

Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H. C., Bertoldi, Mariarita, McGinty, Gabrielle E., DiBacco, Melissa L., Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Sahin, Mustafa, and Pearl, Phillip L.

Published
2024
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3. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Author

Tokatly Latzer, Itay, Bertoldi, Mariarita, Blau, Nenad, DiBacco, Melissa L., Elsea, Sarah H., García-Cazorla, Àngels, Gibson, K. Michael, Gropman, Andrea L., Hanson, Ellen, Hoffman, Carolyn, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Knerr, Ina, Lee, Henry H.C., Malaspina, Patrizia, McConnell, Alice, Opladen, Thomas, Oppebøen, Mari, Rotenberg, Alexander, Walterfang, Mark, Wang-Tso, Lee, Wevers, Ron A., Roullet, Jean-Baptiste, and Pearl, Phillip L.

Published
2024
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4. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Author

Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, and Blau, Nenad

Published
2023
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5. Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

Author

Alfonsi, Chiara, Stephan-Otto, Christian, Cortès-Saladelafont, Elisenda, Palacios, Natalia Juliá, Podzamczer-Valls, Inés, Cruz, Nuria Gutiérrez, Jiménez, María Rosario Domingo, Micó, Salvador Ibáñez, Vila, Miguel Tomás, Jeltsch, Kathrin, Hübschmann, Oya Kuseyri, Opladen, Thomas, Fragua, Ramón Velázquez, Gómez, Teresa, Fortuny, Oscar Alcoverro, Jiménez, Inmaculada García, Laso, Eduardo López, Martínez, Ana Roche, López, Jordi Muchart, and Garcia-Cazorla, Àngels

Published
2022
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6. Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 in Households with Children, Southwest Germany, May-August 2020

Author

Stich, Maximilian, Elling, Roland, Renk, Hanna, Janda, Ales, Garbade, Sven F., Muller, Barbara, Krausslich, Hans-Georg, Fabricius, Dorit, Zernickel, Maria, Meissner, Peter, Huzly, Daniela, Grulich-Henn, Jurgen, Haddad, Anneke, Gorne, Tessa, Spielberger, Benedikt, Fritsch, Linus, Nieters, Alexandra, Hengel, Hartmut, Dietz, Andrea N., Stamminger, Thomas, Ganzenmueller, Tina, Ruetalo, Natalia, Peter, Andreas, Remppis, Jonathan, Iftner, Thomas, Jeltsch, Kathrin, Waterboer, Tim, Franz, Axel R., Hoffmann, Georg Friedrich, Engel, Corinna, Debatin, Klaus- Michael, Tonshoff, Burkhard, and Henneke, Philipp

Subjects
Epidemics -- Statistics -- Risk factors -- Germany, Households -- Statistics -- Health aspects, Disease transmission -- Statistics -- Risk factors, Communicable diseases in children -- Statistics -- Risk factors, Pediatric research, Health
Abstract

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread globally since its emergence in December 2019. As of March 2021, >120 million infections have been reported, and >2.7 million [...]

Published
2021
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7. Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial

Author

Cosgun, Zülfü C., Hünseler, Christoph, Schönenkorb, Jana, Wurm, Juliane, Klein, Florian, Heger, Eva, Knops, Elena, Sierra-Aragón, Saleta, Kretschmer, Alina Chloé, Sprute, Rosanne, Kossow, Annelene, Hellmich, Martin, Shah-Hosseini, Kija, Weiss, Michael, Goedicke-Fritz, Sybelle, Kaiser, Elisabeth, Meyer, Sascha, Seiwert, Nastasja, Smola, Sigrun, Pfuhl, Thorsten, Lohse, Stefan, Schupp, Anna-Kathrin, Timm, Jörg, Gröne, Nehle, Lesmann, Hellen, Bredahl, Renate, Schneble, Lukas, Turinsky, Martin, Patry, Christian, Hoffmann, Georg F, Müller, Barbara, Börner, Kathleen, Schnitzler, Paul, Heuser, Anke-Mareil, Welker, Andreas, von Both, Ulrich, Kern, Anna, Joachim, Alexander, Dewald, Felix, Suárez, Isabelle, Zemlin, Michael, Lang, Isabelle, Stutz, Regine, Marthaler, Anna, Bosse, Hans Martin, Lübke, Nadine, Münch, Juliane, Bernard, Marie-Annett, Jeltsch, Kathrin, Tönshoff, Burkhard, Weidner, Niklas, Kräusslich, Hans-Georg, Birzele, Lena, Hübner, Johannes, Schmied, Patricia, Meyer-Bühn, Melanie, Horemheb-Rubio, Gibran, Cornely, Oliver A., Haverkamp, Heinz, Wiesmüller, Gerhard, Fätkenheuer, Gerd, Hero, Barbara, Kaiser, Rolf, Dötsch, Jörg, and Rybniker, Jan

Published
2021
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8. The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

Author

Julia‐Palacios, Natalia Alexandra, primary, Kuseyri Hübschmann, Oya, additional, Olivella, Mireia, additional, Pons, Roser, additional, Horvath, Gabriella, additional, Lücke, Thomas, additional, Fung, Cheuk‐Wing, additional, Wong, Suet‐Na, additional, Cortès‐Saladelafont, Elisenda, additional, Rovira‐Remisa, M. Mar, additional, Yıldız, Yılmaz, additional, Mercimek‐Andrews, Saadet, additional, Assmann, Birgit, additional, Stevanović, Galina, additional, Manti, Filippo, additional, Brennenstuhl, Heiko, additional, Jung‐Klawitter, Sabine, additional, Jeltsch, Kathrin, additional, Sivri, H. Serap, additional, Garbade, Sven F., additional, García‐Cazorla, Àngels, additional, and Opladen, Thomas, additional

Published
2024
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9. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Author

Latzer, Itay Tokatly, primary, Bertoldi, Mariarita, additional, Blau, Nenad, additional, DiBacco, Melissa L., additional, Elsea, Sarah H., additional, García-Cazorla, Àngels, additional, Gibson, K. Michael, additional, Gropman, Andrea L., additional, Hanson, Ellen, additional, Hoffman, Carolyn, additional, Jeltsch, Kathrin, additional, Juliá-Palacios, Natalia, additional, Knerr, Ina, additional, Lee, Henry H.C., additional, Malaspina, Patrizia, additional, McConnell, Alice, additional, Opladen, Thomas, additional, Oppebøen, Mari, additional, Rotenberg, Alexander, additional, Walterfang, Mark, additional, Wang-Tso, Lee, additional, Wevers, Ron A., additional, Roullet, Jean-Baptiste, additional, and Pearl, Phillip L., additional

Published
2024
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11. Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Author

Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, de Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., and Jeltsch, Kathrin

Abstract

Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents the results of the first standardized study on levodopa‐refractory hyperprolactinemia (LRHP; >1000 mU/L) and pituitary magnetic resonance imaging (MRI) abnormalities in patients with inherited disorders of biogenic amine metabolism. Twenty‐six individuals had LRHP or abnormal pituitary findings on MRI. Tetrahydrobiopterin deficiencies were the most common diagnoses (n = 22). The median age at diagnosis of LRHP was 16 years (range: 2.5–30, 1st–3rd quartiles: 12.25–17 years). Twelve individuals (nine females) had symptoms attributed to hyperprolactinemia: menstruation‐related abnormalities (n = 7), pubertal delay or arrest (n = 5), galactorrhea (n = 3), and decreased sexual functions (n = 2). MRI of the pituitary gland was obtained in 21 individuals; six had heterogeneity/hyperplasia of the gland, five had adenoma, and 10 had normal findings. Eleven individuals were treated with the dopamine agonist cabergoline, ameliorating the hyperprolactinemia‐related symptoms in all those assessed. Routine monitoring of these symptoms together with prolactin concentrations, especially after the first decade of life, should be taken into consideration during follow‐up evaluations. The potential of slow‐release levodopa formulations and low‐dose dopamine agonists as part of first‐line therapy in the prevention and treatment of hyperprolactinemia should be investigated further in animal studies and human trials. This work adds hyperprolactinemia‐related findings to the current knowledge of the phenotypic spectrum of inherited disorders of biogenic amine metabolism. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Author

Himmelreich, Nastassja, primary, Bertoldi, Mariarita, additional, Alfadhel, Majid, additional, Alghamdi, Malak Ali, additional, Anikster, Yair, additional, Bao, Xinhua, additional, Bashiri, Fahad A., additional, Zeev, Bruria Ben, additional, Bisello, Giovanni, additional, Ceylan, Ahmet Cevdet, additional, Chien, Yin-Hsiu, additional, Choy, Yew Sing, additional, Elsea, Sarah H., additional, Flint, Lisa, additional, García-Cazorla, Àngels, additional, Gijavanekar, Charul, additional, Gümüş, Emel Yılmaz, additional, Hamad, Muddathir H., additional, Hişmi, Burcu, additional, Honzik, Tomas, additional, Kuseyri Hübschmann, Oya, additional, Hwu, Wuh-Liang, additional, Ibáñez-Micó, Salvador, additional, Jeltsch, Kathrin, additional, Juliá-Palacios, Natalia, additional, Kasapkara, Çiğdem Seher, additional, Kurian, Manju A., additional, Kusmierska, Katarzyna, additional, Liu, Ning, additional, Ngu, Lock Hock, additional, Odom, John D., additional, Ong, Winnie Peitee, additional, Opladen, Thomas, additional, Oppeboen, Mari, additional, Pearl, Phillip L., additional, Pérez, Belén, additional, Pons, Roser, additional, Rygiel, Agnieszka Magdalena, additional, Shien, Tan Ee, additional, Spaull, Robert, additional, Sykut-Cegielska, Jolanta, additional, Tabarki, Brahim, additional, Tangeraas, Trine, additional, Thöny, Beat, additional, Wassenberg, Tessa, additional, Wen, Yongxin, additional, Yakob, Yusnita, additional, Yin, Jasmine Goh Chew, additional, Zeman, Jiri, additional, and Blau, Nenad, additional

Published
2023
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13. Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

Author

Yıldız, Yılmaz, primary, Kuseyri Hübschmann, Oya, additional, Akgöz Karaosmanoğlu, Ayça, additional, Manti, Filippo, additional, Karaca, Meryem, additional, Schwartz, Ida Vanessa D., additional, Pons, Roser, additional, López‐Laso, Eduardo, additional, Palacios, Natalia Alexandra Julia, additional, Porta, Francesco, additional, Kavecan, Ivana, additional, Balcı, Mehmet Cihan, additional, Dy‐Hollins, Marisela E., additional, Wong, Suet‐Na, additional, Oppebøen, Mari, additional, Medeiros, Leonardo Simão, additional, de Paula, Leila Cristina Pedroso, additional, García‐Cazorla, Angeles, additional, Hoffmann, Georg F., additional, Jeltsch, Kathrin, additional, Leuzzi, Vincenzo, additional, Gökçay, Gülden, additional, Hübschmann, Daniel, additional, Harting, Inga, additional, Özön, Z. Alev, additional, Sivri, Serap, additional, and Opladen, Thomas, additional

Published
2023
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15. The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

Author

Tokatly Latzer, Itay, primary, Bertoldi, Mariarita, additional, DiBacco, Melissa L., additional, Arning, Erland, additional, Tsuboyama, Melissa, additional, MacMullin, Paul, additional, Sachee, Daniyal, additional, Rotenberg, Alexander, additional, Lee, Henry H. C., additional, Aygun, Deniz, additional, Opladen, Thomas, additional, Jeltsch, Kathrin, additional, García‐Cazorla, Àngels, additional, Roullet, Jean‐Baptiste, additional, Gibson, K. Michael, additional, and Pearl, Phillip L., additional

Published
2023
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16. Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.

Author

Tokatly Latzer, Itay, Hanson, Ellen, Bertoldi, Mariarita, García‐Cazorla, Àngeles, Tsuboyama, Melissa, MacMullin, Paul, Rotenberg, Alexander, Roullet, Jean‐Baptiste, Pearl, Phillip L., Gibson, K Michael, Arning, Erland, DiBacco, Melissa L, Aygun, Deniz, Sachee, Daniyal, Lee, Henry H C, Papadelis, Christos, Opladen, Thomas, Jeltsch, Kathrin, Warfield, Simon, and Hoffman, Carolyn

Subjects
SUCCINATE dehydrogenase, AUTISM spectrum disorders, GABA, TRANSCRANIAL magnetic stimulation, NEUROPSYCHOLOGICAL tests
Abstract

Aim: To elucidate the etiological aspects of autism spectrum disorder (ASD) in succinic semialdehyde dehydrogenase deficiency (SSADHD), related to dysregulation of γ‐aminobutyric acid (GABA) and the imbalance of excitatory and inhibitory neurotransmission. Method: In this prospective, international study, individuals with SSADHD underwent neuropsychological assessments, as well as biochemical, neurophysiological, and neuroimaging evaluations. Results: Of the 29 individuals (17 females) enrolled (median age [IQR] 10 years 5 months [5 years 11 months–18 years 1 month]), 16 were diagnosed with ASD. ASD severity significantly increased with age (r = 0.67, p < 0.001) but was inversely correlated with plasma GABA (r = −0.67, p < 0.001) and γ‐hydroxybutyrate levels (r = −0.538, p = 0.004), and resting motor threshold as measured by transcranial magnetic stimulation (r = −0.44, p = 0.03). A discriminative analysis indicated that an age older than 7 years 2 months (p = 0.004) and plasma GABA levels less than 2.47 μM (p = 0.01) are the threshold values beyond which the likelihood of ASD presenting in individuals with SSADHD is increased. Interpretation: ASD is prevalent but not universal in SSADHD, and it can be predicted by lower levels of plasma GABA and GABA‐related metabolites. ASD severity in SSADHD increases with age and the loss of cortical inhibition. These findings add insight into the pathophysiology of ASD and may facilitate its early diagnosis and intervention in individuals with SSADHD. [ABSTRACT FROM AUTHOR]

Published
2023
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17. PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY

Author

Himmelreich, Nastassja, primary, Bertoldi, Mariarita, additional, Bisello, Giovanni, additional, Anikster, Yair, additional, Zeev, Bruria Ben, additional, Chien, Yin-Hsiu, additional, Hwu, Wuh-Liang, additional, Kurian, Manju, additional, Spaull, Robert, additional, Pearl, Phillip L., additional, Perez, Belen, additional, Pons, Roser, additional, Thony, Beat, additional, Hübschmann, Oya Kuseyri, additional, Jeltsch, Kathrin, additional, Opladen, Thomas, additional, and Blau, Nenad, additional

Published
2023
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18. Live‐virus neutralization of the omicron variant in children and adults 14 months after SARS‐CoV‐2 wild‐type infection

Author

Stich, Maximilian, primary, Benning, Louise, additional, Speer, Claudius, additional, Garbade, Sven F., additional, Bartenschlager, Marie, additional, Kim, Heeyoung, additional, Jeltsch, Kathrin, additional, Tabatabai, Julia, additional, Niesert, Moritz, additional, Janda, Aleš, additional, Renk, Hanna, additional, Elling, Roland, additional, Hoffmann, Georg Friedrich, additional, Kräusslich, Hans‐Georg, additional, Müller, Barbara, additional, Bartenschlager, Ralf, additional, and Tönshoff, Burkhard, additional

Published
2023
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19. The presence and severity of epilepsy coincide with reduced GABA and cortical excitatory markers in SSADH deficiency

Author

Tokatly Latzer, Itay, Bertoldi, Mariarita, Dibacco, Melissa L, Arning, Erland, Tsuboyama, Melissa, Macmullin, Paul, Sachee, Daniyal, Rotenberg, Alexander, Lee, Henry H C, Aygun, Deniz, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Roullet, Jean-Baptiste, Gibson, K Michael, and Pearl, Phillip L

Subjects
Pathomechanism, Seizures, Epileptogenesis, Excitation, Inhibition
Published
2023

20. Waning Immunity 14 Months After SARS-CoV-2 Infection

Author

Stich, Maximilian, primary, Benning, Louise, additional, Speer, Claudius, additional, Garbade, Sven F., additional, Bartenschlager, Marie, additional, Kim, Heeyoung, additional, Gleich, Florian, additional, Jeltsch, Kathrin, additional, Haase, Bettina, additional, Janda, Aleš, additional, Renk, Hanna, additional, Elling, Roland, additional, Schnitzler, Paul, additional, Waterboer, Tim, additional, Hoffmann, Georg Friedrich, additional, Kräusslich, Hans-Georg, additional, Müller, Barbara, additional, Bartenschlager, Ralf, additional, and Tönshoff, Burkhard, additional

Published
2022
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22. Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

Author

Hübschmann, Oya Kuseyri, primary, Juliá‐Palacios, Natalia Alexandra, additional, Olivella, Mireia, additional, Guder, Philipp, additional, Zafeiriou, Dimitrios I., additional, Horvath, Gabriella, additional, Kulhánek, Jan, additional, Pearson, Toni S., additional, Kuster, Alice, additional, Cortès‐Saladelafont, Elisenda, additional, Ibáñez, Salvador, additional, García‐Jiménez, Maria Concepción, additional, Honzík, Tomáš, additional, Santer, René, additional, Jeltsch, Kathrin, additional, Garbade, Sven F., additional, Hoffmann, Georg F., additional, Opladen, Thomas, additional, and García‐Cazorla, Ángeles, additional

Published
2022
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25. Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial

Author

Joachim, Alexander, primary, Dewald, Felix, additional, Suárez, Isabelle, additional, Zemlin, Michael, additional, Lang, Isabelle, additional, Stutz, Regine, additional, Marthaler, Anna, additional, Bosse, Hans Martin, additional, Lübke, Nadine, additional, Münch, Juliane, additional, Bernard, Marie-Annett, additional, Jeltsch, Kathrin, additional, Tönshoff, Burkhard, additional, Weidner, Niklas, additional, Kräusslich, Hans-Georg, additional, Birzele, Lena, additional, Hübner, Johannes, additional, Schmied, Patricia, additional, Meyer-Bühn, Melanie, additional, Horemheb-Rubio, Gibran, additional, Cornely, Oliver A., additional, Haverkamp, Heinz, additional, Wiesmüller, Gerhard, additional, Fätkenheuer, Gerd, additional, Hero, Barbara, additional, Kaiser, Rolf, additional, Dötsch, Jörg, additional, Rybniker, Jan, additional, Cosgun, Zülfü C., additional, Hünseler, Christoph, additional, Schönenkorb, Jana, additional, Wurm, Juliane, additional, Klein, Florian, additional, Heger, Eva, additional, Knops, Elena, additional, Sierra-Aragón, Saleta, additional, Kretschmer, Alina Chloé, additional, Sprute, Rosanne, additional, Kossow, Annelene, additional, Hellmich, Martin, additional, Shah-Hosseini, Kija, additional, Weiss, Michael, additional, Goedicke-Fritz, Sybelle, additional, Kaiser, Elisabeth, additional, Meyer, Sascha, additional, Seiwert, Nastasja, additional, Smola, Sigrun, additional, Pfuhl, Thorsten, additional, Lohse, Stefan, additional, Schupp, Anna-Kathrin, additional, Timm, Jörg, additional, Gröne, Nehle, additional, Lesmann, Hellen, additional, Bredahl, Renate, additional, Schneble, Lukas, additional, Turinsky, Martin, additional, Patry, Christian, additional, Hoffmann, Georg F, additional, Müller, Barbara, additional, Börner, Kathleen, additional, Schnitzler, Paul, additional, Heuser, Anke-Mareil, additional, Welker, Andreas, additional, von Both, Ulrich, additional, and Kern, Anna, additional

Published
2021
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26. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies

Author

Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angels, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, R., Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya, and Universitat Autònoma de Barcelona

Subjects
BH4, Tetrahydrobiopterin deficiency, Guanosine triphosphate cyclohydrolase deficiency, Hyperphenylalaninemia, CDihydropteridine reductase deficiency, 6-pyruvoyltetrahydropterin synthase deficiency, Dihydropteridine reductase deficiency, Neurotransmitter, INTD, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, Consensus guidelines, SIGN
Abstract

Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH deficiencies, apart from autosomal dominant guanosine triphosphate cyclohydrolase I deficiency and sepiapterin reductase deficiency. Early supplementation of neurotransmitter precursors and where appropriate, treatment of HPA results in significant improvement of motor and cognitive function. Management approaches differ across the world and therefore these guidelines have been developed aiming to harmonize and optimize patient care. Representatives of the International Working Group on Neurotransmitter related Disorders (iNTD) developed the guidelines according to the SIGN (Scottish Intercollegiate Guidelines Network) methodology by evaluating all available evidence for the diagnosis and treatment of BH deficiencies. Although the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH deficient patients.

Published
2021

27. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thomas, Manti, Filippo, Mir, Pablo, Mühlhausen, Chris, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angeles, Opladen, Thomas, Clinical sciences, Pediatrics, Ministry of Health of the Czech Republic, Instituto de Salud Carlos III, European Commission, Dietmar Hopp Foundation, Rosetrees Trust, and National Center for Tumor Diseases (Germany)

Subjects
Biogenic Amines, Movement disorders, Child, preschool, Science, Metabolic disorders, General Physics and Astronomy, Congenital microcephaly, Paediatric research, Bioinformatics, Article, General Biochemistry, Genetics and Molecular Biology, neurotransmitter disorders, dopamine, children, Pregnancy, Biogenic Amines/metabolism, Humans, Medicine, Neurotransmitter metabolism, Global developmental delay, Multidisciplinary, business.industry, Confounding, Genetic Diseases, Inborn, Infant, Newborn, Infant, General Chemistry, International working group, Delivery, Obstetric, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Paediatric neurological disorders, Child, Preschool, Genetic Diseases, Inborn/diagnosis, Small for gestational age, Female, pregnancy, medicine.symptom, business
Abstract

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders., We thank all patients and their families for their contributions to this study and for their trust. T.H. and J.K. were supported the grant from the Ministry of Health of the Czech Republic RVO-VFN 64165 GJIH-0599-00-7-846 and ProgresQ26/LF1. A.G.C. and N.J.P. are supported by FIS P118/00111 “Instituto de Salud Carlos III (ISCIII)” and “Fondo Europeo de desarrollo regional (FEDER)”. T.O., K.J., G.F.H. and O.K.H. were supported in parts by the Dietmar Hopp Foundation, St. Leon-Rot, Germany. M.A.K. is funded by an NIHR Professorship, the Sir Jules Thorn Award for Biomedical Research and the Rosetrees trust. M.V. is supported by Stichting Stofwisselkracht Grant. D.H. acknowledges funding by the Molecular Diagnostics Program of the National Center for Tumor Diseases (NCT) Heidelberg.

Published
2021

28. Additional file 1 of U-IMD: the first Unified European registry for inherited metabolic diseases

Author

Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Ángels García-Cazorla, Dionisi-Vici, Carlo, and Kölker, Stefan

Abstract

Additional file 1: Table S1. List of IEM codes collected in the U-IMD patient registry. Table S2. Detailed list of diseases collected in the U-IMD patient registry with the corresponding number of patients.

Published
2021
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29. Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Author

Keller, Mareike Brennenstuhl, Heiko Huebschmann, Oya Kuseyri and Manti, Filippo Julia Palacios, Natalia Alexandra Friedman, Jennifer Yildiz, Yilmaz Koht, Jeanette Aimee Wong, Suet-Na and Zafeiriou, Dimitrios I. Lopez-Laso, Eduardo Pons, Roser and Kulhanek, Jan Jeltsch, Kathrin Serrano-Lomelin, Jesus and Garbade, Sven F. Opladen, Thomas Goez, Helly Burlina, Alberto Cortes-Saladelafont, Elisenda Fernandez Ramos, Joaquin Alejandro Garcia-Cazorla, Angeles Hoffmann, Georg F. Kiat Hong, Stacey Tay Honzik, Tomas Kavecan, Ivana Kurian, Manju A. Leuzzi, Vincenzo Luecke, Thomas Manzoni, Francesca and Mastrangelo, Mario Mercimek-Andrews, Saadet Mir, Pablo and Oppeboen, Mari Pearson, Toni S. Sivri, H. Serap Steel, Dora and Stevanovic, Galina Fung, Cheuk-Wing Neurotransmitter Related Disorders

Abstract

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (

Published
2021

30. Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools-a cluster randomised trial

Author

Joachim, Alexander, Dewald, Felix, Suarez, Isabelle, Zemlin, Michael, Lang, Isabelle, Stutz, Regine, Marthaler, Anna, Bosse, Hans Martin, Luebke, Nadine, Muench, Juliane, Bernard, Marie-Annett, Jeltsch, Kathrin, Toenshoff, Burkhard, Weidner, Niklas, Kraeusslich, Hans-Georg, Birzele, Lena, Huebner, Johannes, Schmied, Patricia, Meyer-Buehn, Melanie, Horemheb-Rubio, Gibran, Cornely, Oliver A., Haverkamp, Heinz, Wiesmueller, Gerhard, Faetkenheuer, Gerd, Hero, Barbara, Kaiser, Rolf, Doetsch, Joerg, Rybniker, Jan, Joachim, Alexander, Dewald, Felix, Suarez, Isabelle, Zemlin, Michael, Lang, Isabelle, Stutz, Regine, Marthaler, Anna, Bosse, Hans Martin, Luebke, Nadine, Muench, Juliane, Bernard, Marie-Annett, Jeltsch, Kathrin, Toenshoff, Burkhard, Weidner, Niklas, Kraeusslich, Hans-Georg, Birzele, Lena, Huebner, Johannes, Schmied, Patricia, Meyer-Buehn, Melanie, Horemheb-Rubio, Gibran, Cornely, Oliver A., Haverkamp, Heinz, Wiesmueller, Gerhard, Faetkenheuer, Gerd, Hero, Barbara, Kaiser, Rolf, Doetsch, Joerg, and Rybniker, Jan

Abstract

Background: The extent to which children and adolescents contribute to SARS-CoV-2 transmission remains not fully understood. Novel high-capacity testing methods may provide real-time epidemiological data in educational settings helping to establish a rational approach to prevent and minimize SARS-CoV-2 transmission. We investigated whether pooling of samples for SARS-CoV-2 detection by RT-qPCR is a sensitive and feasible high-capacity diagnostic strategy for surveillance of SARS-CoV-2 infections in schools. Methods: In this study, students and school staff of 14 educational facilities in Germany were tested sequentially between November 9 and December 23, 2020, two or three times per week for at least three consecutive weeks. Participants were randomized for evaluation of two different age adjusted swab sampling methods (oropharyngeal swabs or buccal swabs compared to saliva swabs using a 'lolli method'). Swabs were collected and pooled for SARS-CoV-2 RT-qPCR. Individuals of positive pooled tests were retested by RTqPCR the same or the following day. Positive individuals were quarantined while the SARS-CoV-2 negative individuals remained in class with continued pooled RT-qPCR surveillance. The study is registered with the German Clinical Trials register (registration number: DRKS00023911). Findings: 5,537 individuals were eligible and 3970 participants were enroled and included in the analysis. In students, a total of 21,978 swabs were taken and combined in 2218 pooled RT-qPCR tests. We detected 41 positive pooled tests (1 cent 8%) leading to 36 SARS-CoV-2 cases among students which could be identified by individual re-testing. The cumulative 3-week incidence for primary schools was 564/100,000 (6/1064, additionally 1 infection detected in week 4) and 1249/100,000 (29/2322) for secondary schools. In secondary schools, there was no difference in the number of SARS-CoV-2 positive students identified from pooled oropharyngeal swabs compared to those identified from poo

Published
2021

31. Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Author

University of Heidelberg, Keller, Mareike, Brennenstuhl, Heiko, Hübschmann, Oya Kuseyri, Manti, Filippo, Palacios, Natalia Alexandra Julia, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet-Na, Zafeiriou, Dimitrios I., López-Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano-Lomelin, Jesús, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín Alejandro, García-Cazorla, Ángeles, Hoffmann, Georg F., Tay Kiat Hong, Stacey, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A., Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek-Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S., Sivri, H. Serap, Steel, Dora, Stevanović, Galina, Fung, Cheuk-Wing, University of Heidelberg, Keller, Mareike, Brennenstuhl, Heiko, Hübschmann, Oya Kuseyri, Manti, Filippo, Palacios, Natalia Alexandra Julia, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet-Na, Zafeiriou, Dimitrios I., López-Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano-Lomelin, Jesús, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín Alejandro, García-Cazorla, Ángeles, Hoffmann, Georg F., Tay Kiat Hong, Stacey, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A., Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek-Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S., Sivri, H. Serap, Steel, Dora, Stevanović, Galina, and Fung, Cheuk-Wing

Abstract

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits.

Published
2021

32. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Ministry of Health of the Czech Republic, Instituto de Salud Carlos III, European Commission, Dietmar Hopp Foundation, Rosetrees Trust, National Center for Tumor Diseases (Germany), Hübschmann, Oya Kuseyri, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., iNTD Registry Study Group, García-Cazorla, Ángeles, Opladen, Thomas, Ministry of Health of the Czech Republic, Instituto de Salud Carlos III, European Commission, Dietmar Hopp Foundation, Rosetrees Trust, National Center for Tumor Diseases (Germany), Hübschmann, Oya Kuseyri, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., iNTD Registry Study Group, García-Cazorla, Ángeles, and Opladen, Thomas

Abstract

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.

Published
2021

33. Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest Germany

Author

Tönshoff, Burkhard, primary, Müller, Barbara, additional, Elling, Roland, additional, Renk, Hanna, additional, Meissner, Peter, additional, Hengel, Hartmut, additional, Garbade, Sven F., additional, Kieser, Meinhard, additional, Jeltsch, Kathrin, additional, Grulich-Henn, Jürgen, additional, Euler, Julia, additional, Stich, Maximilian, additional, Chobanyan-Jürgens, Kristine, additional, Zernickel, Maria, additional, Janda, Aleš, additional, Wölfle, Lena, additional, Stamminger, Thomas, additional, Iftner, Thomas, additional, Ganzenmueller, Tina, additional, Schmitt, Christian, additional, Görne, Tessa, additional, Laketa, Vibor, additional, Olberg, Sylvia, additional, Plaszczyca, Anna, additional, Cortese, Mirko, additional, Bartenschlager, Ralf, additional, Pape, Constantin, additional, Remme, Roman, additional, Huzly, Daniela, additional, Panning, Marcus, additional, Weigang, Sebastian, additional, Giese, Sebastian, additional, Ciminski, Kevin, additional, Ankerhold, Jakob, additional, Kochs, Georg, additional, Schwemmle, Martin, additional, Handgretinger, Rupert, additional, Niemeyer, Charlotte M., additional, Engel, Corinna, additional, Kern, Winfried V., additional, Hoffmann, Georg Friedrich, additional, Franz, Axel R., additional, Henneke, Philipp, additional, Debatin, Klaus-Michael, additional, and Kräusslich, Hans-Georg, additional

Published
2021
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34. Additional file 1 of Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Author

Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., H. Serap Sivri, Yilmaz Yildiz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, Angeles García-Cazorla, Tomáš Honzík, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, and Hübschmann, Oya Kuseyri

Abstract

Additional file 1: Table S1. Key questions for the Guideline on diagnosis and treatment of BH4 deficiencies.

Published
2020
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35. U-IMD: The first Unified European registry for Inherited Metabolic Diseases

Author

Opladen, Thomas, primary, Gleich, Florian, additional, Kozich, Viktor, additional, Scarpa, Maurizio, additional, Martinelli, Diego, additional, Schaefer, Franz, additional, Jeltsch, Kathrin, additional, Palacios, Natalia Julia, additional, Cazorla, Angels Garcia, additional, Vici, Carlo Dionisi, additional, and Kölker, Stefan, additional

Published
2021
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36. An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia

Author

Kuseyri Hübschmann, Oya, primary, Palacios, Natalia Alexandra Julia, additional, Olivella, Mireia, additional, Guder, Philipp, additional, Zafeiriou, Dimitrios I., additional, Horvath, Gabriella, additional, Kulhánek, Jan, additional, Pearson, Toni S., additional, Kuster, Alice, additional, Cortès-Saladelafont, Elisenda, additional, Ibáñez, Salvador, additional, García-Jiménez, M. Concepción, additional, Honzík, Tomáš, additional, Santer, Rene, additional, Jeltsch, Kathrin, additional, Garbade, Sven F., additional, Hoffmann, Georg Friedrich, additional, Opladen, Thomas, additional, and García-Cazorla, Ángeles, additional

Published
2021
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37. U-IMD: The First Unified European Registry for Inherited Metabolic Diseases

Author

Opladen, Thomas, primary, Gleich, Florian, additional, Kozich, Viktor, additional, Scarpa, Maurizio, additional, Martinelli, Diego, additional, Schaefer, Franz, additional, Jeltsch, Kathrin, additional, Palacios, Natalia Julia, additional, Cazorla, Angels Garcia, additional, Vici, Carlo Dionisi, additional, and Kölker, Stefan, additional

Published
2020
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38. Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

Author

Tristán‐Noguero, Alba, primary, Borràs, Eva, additional, Molero‐Luis, Marta, additional, Wassenberg, Tessa, additional, Peters, Tessa, additional, Verbeek, Marcel M., additional, Willemsen, Michel, additional, Opladen, Thomas, additional, Jeltsch, Kathrin, additional, Pons, Roser, additional, Thony, Beat, additional, Horvath, Gabriella, additional, Yapici, Zuhal, additional, Friedman, Jennifer, additional, Hyland, Keith, additional, Agosta, Guillermo E., additional, López‐Laso, Eduardo, additional, Artuch, Rafael, additional, Sabidó, Eduard, additional, and García‐Cazorla, Àngels, additional

Published
2020
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39. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Author

Pearson, Toni S., primary, Gilbert, Laura, additional, Opladen, Thomas, additional, Garcia‐Cazorla, Angeles, additional, Mastrangelo, Mario, additional, Leuzzi, Vincenzo, additional, Tay, Stacy K. H., additional, Sykut‐Cegielska, Jolanta, additional, Pons, Roser, additional, Mercimek‐Andrews, Saadet, additional, Kato, Mitsuhiro, additional, Lücke, Thomas, additional, Oppebøen, Mari, additional, Kurian, Manju A., additional, Steel, Dora, additional, Manti, Filippo, additional, Meeks, Kathleen D., additional, Jeltsch, Kathrin, additional, and Flint, Lisa, additional

Published
2020
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40. Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest Germany

Author

Toenshoff, Burkhard, primary, Müller, Barbara, additional, Elling, Roland, additional, Renk, Hanna, additional, Meissner, Peter, additional, Hengel, Hartmut, additional, Garbade, Sven F., additional, Kieser, Meinhard, additional, Jeltsch, Kathrin, additional, Grulich-Henn, Jürgen, additional, Euler, Julia, additional, Stich, Maximilian, additional, Chobanyan-Jürgens, Kristine, additional, Zernickel, Maria, additional, Janda, Aleš, additional, Wölfe, Lena, additional, Stamminger, Thomas, additional, Iftner, Thomas, additional, Ganzenmueller, Tina, additional, Görne, Tessa, additional, Laketa, Vibor, additional, Olberg, Sylvia, additional, Plasczyczca, Anna, additional, Cortese, Mirko, additional, Pape, Constantin, additional, Remme, Roman, additional, Huzly, Daniela, additional, Panning, Marcus, additional, Weigang, Sebastian, additional, Giese, Sebastian, additional, Ciminski, Kevin, additional, Ankerhold, Jakob, additional, Kochs, Georg, additional, Schwemmle, Martin, additional, Handgretinger, Rupert, additional, Niemeyer, Charlotte M., additional, Engel, Corinna, additional, Kern, Winfried V., additional, Hoffmann, Georg Friedrich, additional, Franz, Axel, additional, Henneke, Philipp, additional, Debatin, Klaus-Michael, additional, and Kräusslich, Hans-Georg, additional

Published
2020
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41. Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Author

Keller, Mareike, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Manti, Filippo, Julia Palacios, Natalia Alexandra, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet‐Na, Zafeiriou, Dimitrios I., López‐Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano‐Lomelin, Jesus, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, and Cortès‐Saladelafont, Elisenda

Abstract

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age‐adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40‐100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40‐129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self‐stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self‐injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6‐pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter‐related disorders and (b) previously underreported behavioral traits. [ABSTRACT FROM AUTHOR]

Published
2021
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42. Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.

Author

Brennenstuhl, Heiko, Nashawi, Mohammed, Schröter, Julian, Baronio, Federico, Beedgen, Lars, Gleich, Florian, Jeltsch, Kathrin, von Landenberg, Christina, Martini, Silvia, Simon, Anna, Thiel, Christian, Tsiakas, Konstantinos, Opladen, Thomas, Kölker, Stefan, Hoffmann, Georg F., and Haas, Dorothea

Abstract

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized by increased urinary excretion of mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises and neurologic impairment. Here, we present an in‐depth analysis of the phenotypic spectrum of MVA and provide an in‐silico pathogenicity model analysis of MVK missense variants. The phenotypic spectrum of 11 MVA patients (age range 0‐51 years) registered in the Unified European Registry for Inherited Metabolic Disorders database was systematically analyzed using terms of the Human Phenotype Ontology. Biochemical, radiological as well as genetic characteristics were investigated. Six of eleven patients have reached adulthood and four have reached adolescence. One of the adolescent patients died at the age of 16 years and one patient died shortly after birth. Symptoms started within the first year of life, including episodic fever, developmental delay, ataxia, and ocular involvement. We also describe a case with absence of symptoms despite massive excretion of mevalonic acid. Pathogenic variants causing MVA cluster within highly conserved regions, which are involved in mevalonate and ATP binding. The phenotype of adult and adolescent MVA patients is more heterogeneous than previously assumed. Outcome varies from an asymptomatic course to early death. MVK variants cluster in functionally important and highly conserved protein domains and show high concordance regarding their expected pathogenicity. [ABSTRACT FROM AUTHOR]

Published
2021
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43. Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.

Author

Tristán‐Noguero, Alba, Borràs, Eva, Molero‐Luis, Marta, Wassenberg, Tessa, Peters, Tessa, Verbeek, Marcel M., Willemsen, Michel, Opladen, Thomas, Jeltsch, Kathrin, Pons, Roser, Thony, Beat, Horvath, Gabriella, Yapici, Zuhal, Friedman, Jennifer, Hyland, Keith, Agosta, Guillermo E., López‐Laso, Eduardo, Artuch, Rafael, Sabidó, Eduard, and García‐Cazorla, Àngels

Abstract

Background: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa‐responsive dystonia. Objectives: The objective of this study was to conduct proteomic studies in cerebrospinal fluid (CSF) samples of patients with monoamine defects to detect biomarkers involved in pathophysiology, clinical phenotypes, and treatment response. Methods: A total of 90 patients from diverse centers of the International Working Group on Neurotransmitter Related Disorders were included in the study (37 untreated before CSF collection, 48 treated and 5 unknown at the collection time). Clinical and molecular metadata were related to the protein abundances in the CSF. Results: Concentrations of 4 proteins were significantly altered, detected by mass spectrometry, and confirmed by immunoassays. First, decreased levels of apolipoprotein D were found in severe cases of aromatic L‐amino acid decarboxylase deficiency. Second, low levels of apolipoprotein H were observed in patients with the severe phenotype of tyrosine hydroxylase deficiency, whereas increased concentrations of oligodendrocyte myelin glycoprotein were found in the same subset of patients with tyrosine hydroxylase deficiency. Third, decreased levels of collagen6A3 were observed in treated patients with tetrahydrobiopterin deficiency. Conclusion: This study with the largest cohort of patients with monoamine defects studied so far reports the proteomic characterization of CSF and identifies 4 novel biomarkers that bring new insights into the consequences of early dopaminergic deprivation in the developing brain. They open new possibilities to understand their role in the pathophysiology of these disorders, and they may serve as potential predictors of disease severity and therapies. © 2020 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2021
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44. Additional file 3: of Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Author

Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg, Assmann, Birgit, Blau, Nenad, Angeles Garcia-Cazorla, Artuch, Rafael, Pons, Roser, Pearson, Toni, Vincenco Leuzzi, Mastrangelo, Mario, Pearl, Phillip, Lee, Wang, Kurian, Manju, Heales, Simon, Flint, Lisa, Verbeek, Marcel, MichèL Willemsen, and Opladen, Thomas

Abstract

AADCD Emergency card. (DOCX 16 kb)

Published
2017
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45. Additional file 1: of Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Author

Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg, Assmann, Birgit, Blau, Nenad, Angeles Garcia-Cazorla, Artuch, Rafael, Pons, Roser, Pearson, Toni, Vincenco Leuzzi, Mastrangelo, Mario, Pearl, Phillip, Lee, Wang, Kurian, Manju, Heales, Simon, Flint, Lisa, Verbeek, Marcel, MichèL Willemsen, and Opladen, Thomas

Abstract

List of Key Questions. (DOCX 28 kb)

Published
2017
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46. Additional file 2: of Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Author

Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg, Assmann, Birgit, Blau, Nenad, Angeles Garcia-Cazorla, Artuch, Rafael, Pons, Roser, Pearson, Toni, Vincenco Leuzzi, Mastrangelo, Mario, Pearl, Phillip, Lee, Wang, Kurian, Manju, Heales, Simon, Flint, Lisa, Verbeek, Marcel, MichèL Willemsen, and Opladen, Thomas

Abstract

Figure S1. Flow chart showing the systematic literature search and number and type of included sources. (PPTX 81 kb)

Published
2017
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47. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Author

Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F, Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S, Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L, Lee, Wang Tso, Kurian, Manju A, Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas, Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F, Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S, Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L, Lee, Wang Tso, Kurian, Manju A, Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, and Opladen, Thomas

Abstract

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology. In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. Furthermore, we identified topics for further research. We believe this guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease.

Published
2017

48. The International Working Group on Neurotransmitter related Disorders (iNTD)

Author

International Working Group on Neurotransmitter related disorders (iNTD), Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A, Honzík, Tomáš, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A, Garcia-Cazorla, Àngels, and Pediatrics

Abstract

INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND RESULTS: The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders. CONCLUSION: The iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches.

Published
2016

49. The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Author

Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., and Garcia-Cazorla, Àngels

Subjects
PTPS, 6-pyruvoyl-tetrahydropterin synthase, SR, sepiapterin reductase, database, dopamine, GABA, glycine, guideline, network, neurotransmitter, patient registry, serine, serotonin, molecular biology, genetics, endocrinology, PSAT, phosphoserine aminotransferase, TH, tyrosine hydroxylase, SSADH, succinic semialdehyde dehydrogenase, 3-PGDH, 3-phosphoglycerat dehydrogenase, 3-PGH, 3-phosphoglycerat dehydrogenase, DHPR, dihydropteridine reductase, DAT, dopamine transporter, DßH, dopamine β-hydroxylase, 3-PSP, 3-phosphoserine phosphatase, NOS, nitric oxide synthase, AADC, aromatic l-amino acid decarboxylase, TPH, tryptophan hydroxylase, PAH, phenylalanine hydroxylase, DHFR, dihydrofolate reductase deficiency, BH4, tetrahydrobiopterin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], NKH, nonketotic hyperglycinemia, GABA, gamma aminobutyric acid, FOLR1, folate receptor alpha, AR/ADGTPCH, autosomal recessive/dominant GTP-cyclohydrolase deficiency, VMAT, vesicular monoamine transporter, MAOA, monoamine oxidase A, 5-MTHF, 5-methyltetrahydrofolate, Research Paper
Abstract

Contains fulltext : 165803.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND RESULTS: The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders. CONCLUSION: The iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches.

Published
2016

50. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Author

Wassenberg, Tessa, primary, Molero-Luis, Marta, additional, Jeltsch, Kathrin, additional, Hoffmann, Georg F., additional, Assmann, Birgit, additional, Blau, Nenad, additional, Garcia-Cazorla, Angeles, additional, Artuch, Rafael, additional, Pons, Roser, additional, Pearson, Toni S., additional, Leuzzi, Vincenco, additional, Mastrangelo, Mario, additional, Pearl, Phillip L., additional, Lee, Wang Tso, additional, Kurian, Manju A., additional, Heales, Simon, additional, Flint, Lisa, additional, Verbeek, Marcel, additional, Willemsen, Michèl, additional, and Opladen, Thomas, additional

Published
2017
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