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1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Author

Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., 2nd, Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A., Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, and Zielonka, Matthias

Published
2024
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2. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Author

Accogli, Andrea, Lin, Sheng-Jia, Severino, Mariasavina, Kim, Sung-Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha S., Al-Maawali, Almundher, Srinivasan, Varunvenkat M., Al-Thihli, Khalid, Schaefer, G. Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M., Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L., Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Sawyer, Lindsey B., Basinger, Alice A., Pedersen, Signe Vandal, Pearson, Toni S., Grange, Dorothy K., Lingappa, Lokesh, McDunnah, Paige, Horvath, Rita, Cognè, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen W., Jafarnejad, Seyed Mehdi, Østergaard, Elsebet, Prada, Carlos E., Ghezzi, Daniele, Gowda, Vykuntaraju K., Taylor, Robert W., Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K., and Maroofian, Reza

Published
2023
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3. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Author

Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, and Zeman, Jiri

Subjects
Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity
Abstract

BACKGROUND:To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. AIMS:Description of the NA and EU patient samples and investigation of the prospects of combined and comparative analyses for individuals with UCDs. METHODS:Retrieval and comparison of the data from 1095 individuals (NA: 620, EU: 475) from two electronic databases. RESULTS:The proportion of females with ornithine transcarbamylase deficiency (fOTC-D), particularly those being asymptomatic (asfOTC-D), was higher in the NA than in the EU sample. Exclusion of asfOTC-D resulted in similar distributions in both samples. The mean age at first symptoms was higher in NA than in EU patients with late onset (LO), but similar for those with early (≤ 28 days) onset (EO) of symptoms. Also, the mean age at diagnosis and diagnostic delay for EO and LO patients were similar in the NA and EU cohorts. In most patients (including fOTC-D), diagnosis was made after the onset of symptoms (59.9%) or by high-risk family screening (24.7%), and less often by newborn screening (8.9%) and prenatal testing (3.7%). Analysis of clinical phenotypes revealed that EO patients presented with more symptoms than LO individuals, but that numbers of symptoms correlated with plasma ammonium concentrations in EO patients only. Liver transplantation was reported for 90 NA and 25 EU patients. CONCLUSIONS:Combined analysis of databases drawn from distinct populations opens the possibility to increase sample sizes for natural history questions, while comparative analysis utilizing differences in approach to treatment can evaluate therapeutic options and enhance long-term outcome studies.

Published
2019

4. The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Author

Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, and Boy, Nikolas

Published
2021
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5. Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

Author

Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, and Boy, Nikolas

Published
2021
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7. Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Author

Wortmann, Saskia B., Feichtinger, Rene G., Abela, Lucia, van Gemert, Loes A., Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Heinritz, Wolfram, Hildebrandt, Julia, Himmelreich, Nastassja, Korenke, Christoph, Lehman, Anna, Leyland, Thomas, Makowski, Christine, Martinez Marin, Rafael Jenaro, Marzin, Pauline, and Mühlhausen, Chris

Published
2024
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8. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

Author

Zeltner, Nina A., Baumgartner, Matthias R., Bondarenko, Aljona, Ensenauer, Regina, Karall, Daniela, Kölker, Stefan, Mühlhausen, Chris, Scholl-Bürgi, Sabine, Thimm, Eva, Quitmann, Julia, Burgard, Peter, Landolt, Markus A., Huemer, Martina, Baumgartner, Matthias, Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, and Zschocke, Johannes, Series editor

Published
2017
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9. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

Author

Zeltner, Nina A., Landolt, Markus A., Baumgartner, Matthias R., Lageder, Sarah, Quitmann, Julia, Sommer, Rachel, Karall, Daniela, Mühlhausen, Chris, Schlune, Andrea, Scholl-Bürgi, Sabine, Huemer, Martina, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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11. Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium

Author

Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin Hsiu, Cortès-Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas, Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin Hsiu, Cortès-Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, and Boy, Nikolas

Abstract

The SARS-CoV-2 pandemic challenges healthcare systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induced morbidity and mortality. This study (observation period February 2020 to December 2021) evaluates impact on medical health care as well as disease course and outcome of SARS-CoV-2 infections in patients with intoxication-type IMDs managed by participants of the European Registry and Network for intoxication type metabolic diseases Consortium (E-IMD). Survey's respondents managing 792 patients (n = 479 pediatric; n = 313 adult) with intoxication-type IMDs (n = 454 OA; n = 338 UCD) in 14 countries reported on 59 (OA: n = 36; UCD: n = 23), SARS-CoV-2 infections (7.4%). Medical services were increasingly requested (95%), mostly alleviated by remote technologies (86%). Problems with medical supply were scarce (5%). Regular follow-up visits were reduced in 41% (range 10%–50%). Most infected individuals (49/59; 83%) showed mild clinical symptoms, while 10 patients (17%; n = 6 OA including four transplanted MMA patients; n = 4 UCD) were hospitalized (metabolic decompensation in 30%). ICU treatment was not reported. Hospitalization rate did not differ for diagnosis or age group (p = 0.778). Survival rate was 100%. Full recovery was reported for 100% in outpatient care and 90% of hospitalized individuals. SARS-CoV-2 impacts health care of individuals with intoxication-type IMDs worldwide. Most infected individuals, however, showed mild symptoms and did not require hospitalization. SARS-CoV-2-induced metabolic decompensations were usually mild without increased risk for ICU treatment. Overall prognosis of infected individuals is very promising and IMD-specific or COVID-19-related complications have not been observed.

Published
2023

12. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1:third revision

Author

Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer-Seifert, Jana, Fleissner, Sandra, Grohmann-Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M.Charlotte, Nuoffer, Jean Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl-Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, Dahl, Stephan vom, Ziagaki, Athanasia, Zschocke, Johannes, Kölker, Stefan, Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer-Seifert, Jana, Fleissner, Sandra, Grohmann-Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M.Charlotte, Nuoffer, Jean Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl-Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, Dahl, Stephan vom, Ziagaki, Athanasia, Zschocke, Johannes, and Kölker, Stefan

Abstract

Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. Most untreated individuals present with acute onset of striatal damage before age three (to six) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre-symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and intensified emergency treatment during catabolic episodes, which, in combination, have substantially improved neurologic outcome. In contrast, start of treatment after onset of symptoms cannot reverse existing motor dysfunction caused by striatal damage. Dietary treatment can be relaxed after the vulnerable period for striatal damage, i.e. age 6 years. However, impact of dietary relaxation on long-term outcome is still unclear. This third revision of evidence-based recommendations aims to re-evaluate previous recommendations 1-3 and to implement new research findings on the evolving phenotypic diversity as well as the impact of non-interventional variables and treatment quality on clinical outcomes. This article is protected by copyright. All rights reser

Published
2023

13. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Author

Boy, Nikolas; https://orcid.org/0000-0001-7665-6602, Mühlhausen, Chris, Maier, Esther M, Ballhausen, Diana; https://orcid.org/0000-0003-2940-3439, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Beblo, Skadi, Burgard, Peter; https://orcid.org/0000-0003-0665-8025, Chapman, Kimberly A, Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F, Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B, Lindner, Martin, Märtner, E M Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G, Plecko, Barbara; https://orcid.org/0000-0002-3203-1325, Posset, Roland; https://orcid.org/0000-0002-2249-3980, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, et al, Boy, Nikolas; https://orcid.org/0000-0001-7665-6602, Mühlhausen, Chris, Maier, Esther M, Ballhausen, Diana; https://orcid.org/0000-0003-2940-3439, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Beblo, Skadi, Burgard, Peter; https://orcid.org/0000-0003-0665-8025, Chapman, Kimberly A, Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F, Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B, Lindner, Martin, Märtner, E M Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G, Plecko, Barbara; https://orcid.org/0000-0002-3203-1325, Posset, Roland; https://orcid.org/0000-0002-2249-3980, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, and et al

Abstract

Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. Most untreated individuals present with acute onset of striatal damage before age 3 (to 6) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre-symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and intensified emergency treatment during catabolic episodes, which, in combination, have substantially improved neurologic outcome. In contrast, start of treatment after onset of symptoms cannot reverse existing motor dysfunction caused by striatal damage. Dietary treatment can be relaxed after the vulnerable period for striatal damage, that is, age 6 years. However, impact of dietary relaxation on long-term outcomes is still unclear. This third revision of evidence-based recommendations aims to re-evaluate previous recommendations (Boy et al., J Inherit Metab Dis, 2017;40(1):75-101; Kolker et al., J Inherit Metab Dis 2011;34(3):677-694; Kolker et al., J Inherit Metab Dis, 2007;30(1):5-22) and to implement new research findings on the evolving phenotypic diversity as well as th

Published
2023

14. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Author

Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M, Ballhausen, Diana, Baumgartner, Matthias R, Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A, Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F, Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B, Lindner, Martin, Märtner, E M Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G, Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, et al, University of Zurich, and Boy, Nikolas

Subjects
2716 Genetics (clinical), 1311 Genetics, 10036 Medical Clinic, 610 Medicine & health
Published
2023
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15. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Author

Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Heringer, Jana, Assmann, Birgit, Burgard, Peter, Dixon, Marjorie, Fleissner, Sandra, Greenberg, Cheryl R., Harting, Inga, Hoffmann, Georg F., Karall, Daniela, Koeller, David M., Krawinkel, Michael B., Okun, Jürgen G., Opladen, Thomas, Posset, Roland, Sahm, Katja, Zschocke, Johannes, Kölker, Stefan, Koletzko, Berthold, Ballhausen, Diana, Burlina, Alberto B., Fingerhut, Ralph, García-Cazorla, Angeles, Lindner, Martin, Scholl-Bürgi, Sabine, vom Dahl, Stephan, and Additional individual contributors

Published
2017
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16. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Author

Boy, Nikolas, primary, Mühlhausen, Chris, additional, Maier, Esther M., additional, Ballhausen, Diana, additional, Baumgartner, Matthias R., additional, Beblo, Skadi, additional, Burgard, Peter, additional, Chapman, Kimberly A., additional, Dobbelaere, Dries, additional, Heringer‐Seifert, Jana, additional, Fleissner, Sandra, additional, Grohmann‐Held, Karina, additional, Hahn, Gabriele, additional, Harting, Inga, additional, Hoffmann, Georg F., additional, Jochum, Frank, additional, Karall, Daniela, additional, Konstantopoulous, Vassiliki, additional, Krawinkel, Michael B., additional, Lindner, Martin, additional, Märtner, E. M. Charlotte, additional, Nuoffer, Jean‐Marc, additional, Okun, Jürgen G., additional, Plecko, Barbara, additional, Posset, Roland, additional, Sahm, Katja, additional, Scholl‐Bürgi, Sabine, additional, Thimm, Eva, additional, Walter, Magdalena, additional, Williams, Monique, additional, vom Dahl, Stephan, additional, Ziagaki, Athanasia, additional, Zschocke, Johannes, additional, and Kölker, Stefan, additional

Published
2022
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17. Impact of the SARS‐CoV ‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

Author

Mütze, Ulrike, primary, Gleich, Florian, additional, Barić, Ivo, additional, Baumgartner, Mathias, additional, Burlina, Alberto, additional, Chapman, Kimberly A., additional, Chien, Yin‐Hsiu, additional, Cortès‐Saladelafont, Elisenda, additional, De Laet, Corinne, additional, Dobbelaere, Dries, additional, Eysken, Francois, additional, Gautschi, Matthias, additional, Santer, Rene, additional, Häberle, Johannes, additional, Joaquín, Clara, additional, Karall, Daniela, additional, Lindner, Martin, additional, Lund, Allan M., additional, Mühlhausen, Chris, additional, Murphy, Elaine, additional, Roland, Dominique, additional, Ruiz Gomez, Angeles, additional, Skouma, Anastasia, additional, Grünert, Sarah C., additional, Wagenmakers, Margreet, additional, Garbade, Sven F., additional, Kölker, Stefan, additional, and Boy, Nikolas, additional

Published
2022
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18. Lysine Glutarylation Is a Protein Posttranslational Modification Regulated by SIRT5

Author

Tan, Minjia, Peng, Chao, Anderson, Kristin A., Chhoy, Peter, Xie, Zhongyu, Dai, Lunzhi, Park, Jeongsoon, Chen, Yue, Huang, He, Zhang, Yi, Ro, Jennifer, Wagner, Gregory R., Green, Michelle F., Madsen, Andreas S., Schmiesing, Jessica, Peterson, Brett S., Xu, Guofeng, Ilkayeva, Olga R., Muehlbauer, Michael J., Braulke, Thomas, Mühlhausen, Chris, Backos, Donald S., Olsen, Christian A., McGuire, Peter J., Pletcher, Scott D., Lombard, David B., Hirschey, Matthew D., and Zhao, Yingming

Published
2014
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20. Impact of age at onset and newborn screening on outcome in organic acidurias

Author

Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan, and additional individual contributors of the E-IMD consortium

Published
2016
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22. Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

Author

Grohmann‐Held, Karina, primary, Burgard, Peter, additional, Baerwald, Christoph G. O., additional, Beblo, Skadi, additional, vom Dahl, Stephan, additional, Das, Anibh, additional, Dokoupil, Katharina, additional, Fleissner, Sandra, additional, Freisinger, Peter, additional, Heddrich‐Ellerbrok, Margret, additional, Jung, Alexandra, additional, Korpel, Vanessa, additional, Krämer, Johannes, additional, Lier, Dinah, additional, Maier, Esther M., additional, Meyer, Uta, additional, Mühlhausen, Chris, additional, Newger, Martha, additional, Och, Ulrike, additional, Plöckinger, Ursula, additional, Rosenbaum‐Fabian, Stefanie, additional, Rutsch, Frank, additional, Santer, René, additional, Schick, Petra, additional, Schwarz, Martin, additional, Spiekerkötter, Ute, additional, Strittmatter, Ursula, additional, Thiele, Alena G., additional, Ziagaki, Athanasia, additional, Mütze, Ulrike, additional, Gleich, Florian, additional, Garbade, Sven F., additional, and Kölker, Stefan, additional

Published
2022
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24. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Author

Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, and Burgard, Peter

Published
2015
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25. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Author

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., and Garcia Cazorla, Angeles

Published
2015
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26. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

Author

Zeltner, Nina A., primary, Landolt, Markus A., additional, Baumgartner, Matthias R., additional, Lageder, Sarah, additional, Quitmann, Julia, additional, Sommer, Rachel, additional, Karall, Daniela, additional, Mühlhausen, Chris, additional, Schlune, Andrea, additional, Scholl-Bürgi, Sabine, additional, and Huemer, Martina, additional

Published
2016
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27. Impact of the -2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the consortium

Author

Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, and Boy, Nikolas

Subjects
Coronavirus, IMD, Intoxication-type inherited metabolic diseases, Pandemic, SARS-CoV-2, COVID-19, Survey, E-IMD
Abstract

The SARS-CoV-2 pandemic challenges healthcare systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induced morbidity and mortality. This study (observation period February 2020 to December 2021) evaluates impact on medical health care as well as disease course and outcome of SARS-CoV-2 infections in patients with intoxication-type IMDs managed by participants of the European Registry and Network for intoxication type metabolic diseases Consortium (E-IMD). Survey's respondents managing 792 patients (n = 479 pediatric; n = 313 adult) with intoxication-type IMDs (n = 454 OA; n = 338 UCD) in 14 countries reported on 59 (OA: n = 36; UCD: n = 23), SARS-CoV-2 infections (7.4%). Medical services were increasingly requested (95%), mostly alleviated by remote technologies (86%). Problems with medical supply were scarce (5%). Regular follow-up visits were reduced in 41% (range 10%-50%). Most infected individuals (49/59; 83%) showed mild clinical symptoms, while 10 patients (17%; n = 6 OA including four transplanted MMA patients; n = 4 UCD) were hospitalized (metabolic decompensation in 30%). ICU treatment was not reported. Hospitalization rate did not differ for diagnosis or age group (p = 0.778). Survival rate was 100%. Full recovery was reported for 100% in outpatient care and 90% of hospitalized individuals. SARS-CoV-2 impacts health care of individuals with intoxication-type IMDs worldwide. Most infected individuals, however, showed mild symptoms and did not require hospitalization. SARS-CoV-2-induced metabolic decompensations were usually mild without increased risk for ICU treatment. Overall prognosis of infected individuals is very promising and IMD-specific or COVID-19-related complications have not been observed.

Published
2022

28. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias

Author

Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan, and Additional individual contributors of the E-IMD consortium

Published
2018
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30. The Biochemical High Excreter Phenotype Is the Major Risk Factor for Cognitive Impairment in Early Diagnosed Individuals with Glutaric Aciduria Type 1

Author

Märtner, E. M. Charlotte, additional, Thimm, Eva, additional, Guder, Philipp, additional, Schiergens, Katharina A., additional, Rutsch, Frank, additional, Roloff, Sylvia, additional, Marquardt, Iris, additional, Das, Anibh M., additional, Freisinger, Peter, additional, Grünert, Sarah C., additional, Krämer, Johannes, additional, Baumgartner, Matthias R., additional, Beblo, Skadi, additional, Haase, Claudia, additional, Dieckmann, Andrea, additional, Lindner, Martin, additional, Näke, Andrea, additional, Hoffmann, Georg F., additional, Mühlhausen, Chris, additional, Walter, Magdalena, additional, Garbade, Sven F., additional, Maier, Esther M., additional, Kölker, Stefan, additional, and Boy, Nikolas, additional

Published
2021
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32. 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

33. Managing CLN2 disease:a treatable neurodegenerative condition among other treatable early childhood epilepsies

Author

Mazurkiewicz-Bełdzińska, Maria, del Toro, Mireia, Haliloğlu, Göknur, Huidekoper, Hidde H., Kravljanac, Ružica, Mühlhausen, Chris, Andersen, Brian Nauheimer, Prpić, Igor, Striano, Pasquale, Auvin, Stéphane, Mazurkiewicz-Bełdzińska, Maria, del Toro, Mireia, Haliloğlu, Göknur, Huidekoper, Hidde H., Kravljanac, Ružica, Mühlhausen, Chris, Andersen, Brian Nauheimer, Prpić, Igor, Striano, Pasquale, and Auvin, Stéphane

Abstract

Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of the most common early symptoms of CLN2 disease, but patients often experience language deficits, movement disorders, and behavioral problems. Diagnosis of CLN2 disease is challenging (particularly when differentiating between early-onset developmental, metabolic, or epileptic syndromes), and diagnostic delays often overlap with rapid disease progression. An enzyme replacement therapy (cerliponase alfa) is now available, adding CLN2 disease to the list of potentially treatable disorders requiring a prompt diagnosis. Areas covered: Although advances in enzymatic activity testing and genetic testing have facilitated diagnoses of CLN2 disease, our review highlights the presenting symptoms that are vital in directing clinicians to perform appropriate tests or seek expert opinion. We also describe common diagnostic challenges and some potential misdiagnoses that may occur during differential diagnosis. Expert opinion: An awareness of CLN2 disease as a potentially treatable disorder and increased understanding of the key presenting symptoms can support selection of appropriate tests and prompt diagnosis. The available enzyme replacement therapy heralds an even greater imperative for early diagnosis, and for clinicians to direct patients to appropriate diagnostic pathways.

Published
2021

34. Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

Author

Dimitrov, Bianca, Molema, Femke, Williams, Monique, Schmiesing, Jessica, Mühlhausen, Chris, Baumgartner, Matthias R, Schumann, Anke, Kölker, Stefan; https://orcid.org/0000-0001-5188-9477, Dimitrov, Bianca, Molema, Femke, Williams, Monique, Schmiesing, Jessica, Mühlhausen, Chris, Baumgartner, Matthias R, Schumann, Anke, and Kölker, Stefan; https://orcid.org/0000-0001-5188-9477

Abstract

Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic diseases. Increasing awareness, reliable diagnostic work‐up, newborn screening programs for some OADs, optimized neonatal and intensive care, and the development of evidence‐based recommendations have improved neonatal survival and short‐term outcome of affected individuals. However, chronic progression of organ dysfunction in an aging patient population cannot be reliably prevented with traditional therapeutic measures. Evidence is increasing that disease progression might be best explained by mitochondrial dysfunction. Previous studies have demonstrated that some toxic metabolites target mitochondrial proteins inducing synergistic bioenergetic impairment. Although these potentially reversible mechanisms help to understand the development of acute metabolic decompensations during catabolic state, they currently cannot completely explain disease progression with age. Recent studies identified unbalanced autophagy as a novel mechanism in the renal pathology of methylmalonic aciduria, resulting in impaired quality control of organelles, mitochondrial aging and, subsequently, progressive organ dysfunction. In addition, the discovery of post‐translational short‐chain lysine acylation of histones and mitochondrial enzymes helps to understand how intracellular key metabolites modulate gene expression and enzyme function. While acylation is considered an important mechanism for metabolic adaptation, the chronic accumulation of potential substrates of short‐chain lysine acylation in inherited metabolic diseases might exert the opposite effect, in the long run. Recently, changed glutarylation patterns of mitochondrial proteins have been demonstrated in glutaric aciduria type 1. These new insights might bridge the gap between natural history and pathophysiology in OADs, and their exploitation for the development of targeted therapies seems promising.

Published
2021

35. Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

Author

Märtner, E M Charlotte, Maier, Esther M, Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A, Marquardt, Thorsten, Santer, René, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M, Freisinger, Peter, Grünert, Sarah C, Vossbeck, Judith, Steinfeld, Robert, Baumgartner, Matthias R, Beblo, Skadi, Dieckmann, Andrea, Näke, Andrea, Lindner, Martin, Heringer‐Seifert, Jana, Lenz, Dominic, Hoffmann, Georg F, Mühlhausen, Chris, Ensenauer, Regina, Garbade, Sven F, Kölker, Stefan, Boy, Nikolas; https://orcid.org/0000-0001-7665-6602, Märtner, E M Charlotte, Maier, Esther M, Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A, Marquardt, Thorsten, Santer, René, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M, Freisinger, Peter, Grünert, Sarah C, Vossbeck, Judith, Steinfeld, Robert, Baumgartner, Matthias R, Beblo, Skadi, Dieckmann, Andrea, Näke, Andrea, Lindner, Martin, Heringer‐Seifert, Jana, Lenz, Dominic, Hoffmann, Georg F, Mühlhausen, Chris, Ensenauer, Regina, Garbade, Sven F, Kölker, Stefan, and Boy, Nikolas; https://orcid.org/0000-0001-7665-6602

Abstract

Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl-CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy, particular low lysine diet, is safe or negatively affects anthropometric long-term outcome. This national prospective, observational, multi-centre study included 79 patients identified by NBS and investigated effects of interventional and non-interventional parameters on body weight, body length, body mass index (BMI) and head circumference as well as neurological parameters. Adherence to recommended maintenance and emergency treatment (ET) had a positive impact on neurologic outcome and allowed normal anthropometric development until adulthood. In contrast, non-adherence to ET, resulting in increased risk of dystonia, had a negative impact on body weight (mean SDS -1.07; P = .023) and body length (mean SDS -1.34; P = -.016). Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (P < .001). Macrocephaly was more often found in female (mean SDS 0.56) than in male patients (mean SDS -0.20; P = .049), and also in individuals with high excreter phenotype (mean SDS 0.44) compared to low excreter patients (mean SDS -0.68; P = .016). In GA1, recommended long-term treatment is effective and allows for normal anthropometric long-term development up to adolescence, with gender- and excreter type-specific variations. Delayed ET and severe movement disorder result in poor anthropometric outcome.

Published
2021

36. Diagnosis and management of glutaric aciduria type I – revised recommendations

Author

Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., and Burgard, Peter

Published
2011
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38. Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies

Author

Mazurkiewicz-Bełdzińska, Maria, primary, del Toro, Mireia, additional, Haliloğlu, Göknur, additional, Huidekoper, Hidde H., additional, Kravljanac, Ružica, additional, Mühlhausen, Chris, additional, Andersen, Brian Nauheimer, additional, Prpić, Igor, additional, Striano, Pasquale, additional, and Auvin, Stéphane, additional

Published
2021
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40. Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

Author

Märtner, E. M. Charlotte, primary, Maier, Esther M., additional, Mengler, Katharina, additional, Thimm, Eva, additional, Schiergens, Katharina A., additional, Marquardt, Thorsten, additional, Santer, René, additional, Weinhold, Natalie, additional, Marquardt, Iris, additional, Das, Anibh M., additional, Freisinger, Peter, additional, Grünert, Sarah C., additional, Vossbeck, Judith, additional, Steinfeld, Robert, additional, Baumgartner, Matthias R., additional, Beblo, Skadi, additional, Dieckmann, Andrea, additional, Näke, Andrea, additional, Lindner, Martin, additional, Heringer‐Seifert, Jana, additional, Lenz, Dominic, additional, Hoffmann, Georg F., additional, Mühlhausen, Chris, additional, Ensenauer, Regina, additional, Garbade, Sven F., additional, Kölker, Stefan, additional, and Boy, Nikolas, additional

Published
2020
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43. Strategies to shorten diagnostic delays for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)

Author

Mazurkiewicz-Beldinska, Maria, primary, del Toro, Mireia, additional, Hahn, Andreas, additional, Haliloğlu, Goknur, additional, Huidekop, Hidde, additional, Kravljanac, Ruzica, additional, Mühlhausen, Chris, additional, Andersen, Brian Nauheimer, additional, Prpic, Igor, additional, Striano, Pasquale, additional, and Auvin, Stéphane, additional

Published
2020
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44. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Author

Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, and Burgard, Peter

Published
2015
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45. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Author

Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., and Cazorla, Angeles Garcia

Published
2015
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50. Exome sequencing in children undiagnosed developmental delay and neurological illness

Author

A. Mahler, Elisa, Johannsen, Jessika, Tsiakas, Konstantinos, Kloth, Katja, Lüttgen, Sabine, Mühlhausen, Chris, Alhaddad, Bader, B. Haack, Tobias, M. Strom, Tim, Kortüm, Fanny, Meitinger, Thomas, C. Muntau, Ania, Santer, René, Kubisch, Christian, Lessel, Davor, Denecke*, Jonas, and Hempel*, Maja

Subjects
Mutation, Humans, Original Article, Exome, Genetic Testing, Child
Abstract

BACKGROUND: In developed countries, global developmental disorders are encountered in approximately 1% of all children. The causes are manifold, and no exogenous cause can be identified in about half of the affected children. The parallel investigation of the coding sequences of all genes of the affected individual (whole exome sequencing, WES) has developed into a successful diagnostic method for identifying the cause of the problem. It is not yet clear, however, when WES should best be used in routine clinical practice in order to exploit the potential of this method to the fullest. METHODS: In an interdisciplinary study, we carried out standardized clinical phenotyping and a systematic genetic analysis (WES of the index patient and his or her parents, so-called trio WES) in 50 children with developmental disturbances of unclear etiology and with nonspecific neurological manifestations. RESULTS: In 21 children (42% of the collective), we were able to identify the cause of the disorder by demonstrating a mutation in a gene known to be associated with disease. Three of these children subsequently underwent specific treatment. In 22 other children (44%), we detected possibly etiological changes in candidate genes not currently known to be associated with human disease. CONCLUSION: Our detection rate of at least 42% is high in comparison with the results obtained in other studies from Germany and other countries to date and implies that WES can be used to good effect as a differential diagnostic tool in pediatric neurology. WES should be carried out in both the index patient and his or her parents (trio-WES) and accompanied by close interdisciplinary collaboration of human geneticists and pediatricians, by comprehensive and targeted phenotyping (also after the diagnosis is established), and by the meticulous evaluation of all gene variants.

Published
2019

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