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2. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

Author

Wasserstein, Melissa P., Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata C., Giugliani, Roberto, Guelbert, Norberto Bernardo, Hennermann, Julia B., Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth L., Yarramaneni, Abhimanyu, Armstrong, Nicole M., Kim, Yong, and Kumar, Monica

Published
2023
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5. Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study

Author

Brandi, Maria Luisa, Jan de Beur, Suzanne, Briot, Karine, Carpenter, Thomas, Cheong, Hae Il, Cohen-Solal, Martine, Crowley, Rachel K., Eastell, Richard, Imanishi, Yasuo, Imel, Erik A., Ing, Steven W., Insogna, Karl, Ito, Nobuaki, Javaid, Kassim, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin H., Perwad, Farzana, Pitukcheewanont, Pisit, Portale, Anthony, Ralston, Stuart H., Tanaka, Hiroyuki, Weber, Thomas J., Yoo, Han-Wook, Sun, Wei, Williams, Angela, Nixon, Annabel, and Takeuchi, Yasuhiro

Published
2022
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6. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

Author

Mc Govern, Eavan, Yazbeck, Elise, Barbier, Magali, Luton, Marie-Pierre, Pousset, Françoise, Hogrel, Jean-Yves, Adanyeguh, Isaac, Then Bergh, Florian, Bergner, Caroline, Unterlauft, Astrid, Roicke, Hannes, Hoffmann, Karl-Titus, Scherlach, Cordula, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Fenu, Silvia, Mauro, Elena, Murphy, Elaine, Krishna, Gauri, Beyene, Tiggy, Sierra, Alba, Quiñoa, Sara, Belen Canovas, Anna, Grosz, Zoltan, Györgyi, Báthori, van de Stadt, S.I., Huffnagel, I.C., van Ballegoij, W.J.C., Voermans, M.M.C., Seyedsadjadi, Reza, Corre, Camille, Godbole, Neha, Grant, Natalie Rose, Brito Pires, Claudia Maria, Trovato, Melissa, Yeh, Nancy, Goodman, Jordan, Keller, Jennifer, Joseph, Chris, Van Haren, Keith, Sakamuri, Sarada, Duong, Tina, Perrone, Lila, Tran, Stephanie, Dunaway Young, Sally, Hashmi, Syed, Köhler, Wolfgang, Engelen, Marc, Eichler, Florian, Lachmann, Robin, Fatemi, Ali, Sampson, Jacinda, Salsano, Ettore, Gamez, Josep, Molnar, Maria Judit, Pascual, Sílvia, Rovira, Maria, Vilà, Anna, Pina, Guillem, Martín-Ugarte, Itziar, Mantilla, Adriana, Pizcueta, Pilar, Rodríguez-Pascau, Laura, Traver, Estefania, Vilalta, Anna, Pascual, María, Martinell, Marc, Meya, Uwe, and Mochel, Fanny

Published
2023
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8. Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Author

Lin, Siying, Robson, Anthony G., Thompson, Dorothy A., Stepien, Karolina M., Lachmann, Robin, Footitt, Emma, Czyz, Ola, Chandrasekhar, Shwetha, Schiff, Elena, Iosifidis, Christos, Black, Graeme C., Michaelides, Michel, Mahroo, Omar A., Arno, Gavin, and Webster, Andrew R.

Subjects
WHOLE genome sequencing, RETINAL degeneration, SULFATASES, LYSOSOMAL storage diseases, SYMPTOMS, DYSTROPHY
Abstract

Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non‐syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.[290G>T;293T>A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A>G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726‐1G>C and p.(Tyr289Cys). Electroretinography indicated a rod‐cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra‐ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non‐null SUMF1 genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood. [ABSTRACT FROM AUTHOR]

Published
2024
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9. International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach

Author

Engelen, Marc, van Ballegoij, Wouter J.C., Mallack, Eric James, Van Haren, Keith P., Köhler, Wolfgang, Salsano, Ettore, van Trotsenburg, A.S.P., Mochel, Fanny, Sevin, Caroline, Regelman, Molly O, Tritos, Nicholas A, Halper, Alyssa, Lachmann, Robin H, Davison, James, Raymond, Gerald V., Lund, Troy, Orchard, Paul J., Kuehl, Joern-Sven, Lindemans, Caroline A., Caruso, Paul, Turk, Bela Rui, Moser, Ann B., Vaz, Frederic M, Ferdinandusse, Sacha, Kemp, Stephan, Fatemi, Ali, Eichler, Florian S., and Huffnagel, Irene C.

Published
2022
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12. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

Author

Portale, Anthony A., Carpenter, Thomas O., Brandi, Maria Luisa, Briot, Karine, Cheong, Hae II, Cohen-Solal, Martine, Crowley, Rachel, Jan De Beur, Suzanne, Eastell, Richard, Imanishi, Yasuo, Imel, Erik A., Ing, Steven, Ito, Nobuaki, Javaid, Muhammad, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin, Perwad, Farzana, Pitukcheewanont, Pisit, Ralston, Stuart H., Takeuchi, Yasuhiro, Tanaka, Hiroyuki, Weber, Thomas J., Yoo, Han-Wook, Zhang, Lin, Theodore-Oklota, Christina, Mealiffe, Matt, San Martin, Javier, and Insogna, Karl

Published
2019
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19. Mucolipidosis type III, a series of adult patients

Author

Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., and Langeveld, Mirjam

Published
2018
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24. Challenges of whole genome sequencing in population newborn screening.

Author

Horton, Rachel, Lucassen, Anneke, Wright, Caroline F., Firth, Helen V., Turnbull, Clare, Houlston, Richard S., and Lachmann, Robin

Subjects
NEWBORN screening, NATIONAL health services, PARENTS, UNCERTAINTY, DECISION making, EARLY diagnosis, SEQUENCE analysis, GENOMES, GENETIC testing
Published
2024

26. Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Author

Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, and Davison, James E.

Published
2017
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28. Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

Author

Speak, Anneliese O., te Vruchte, Danielle, Davis, Lianne C., Morgan, Anthony J., Smith, David A., Yanjanin, Nicole M., Simmons, Louise, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Imrie, Jackie, Jacklin, Elizabeth, Wraith, James E., Hendriksz, Christian, Lachmann, Robin, Cognet, Celine, Sidhu, Rohini, Fujiwara, Hideji, Ory, Daniel S., Galione, Antony, Porter, Forbes D., Vivier, Eric, and Platt, Frances M.

Published
2014
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29. Cardiac Phenotype of Prehypertrophic Fabry Disease

Author

Nordin, Sabrina, Kozor, Rebecca, Baig, Shanat, Abdel-Gadir, Amna, Medina-Menacho, Katia, Rosmini, Stefania, Captur, Gabriella, Tchan, Michel, Geberhiwot, Tarekegn, Murphy, Elaine, Lachmann, Robin, Ramaswami, Uma, Edwards, Nicola C., Hughes, Derralynn, Steeds, Richard P., and Moon, James C.

Published
2018
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30. Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives.

Author

Seefried, Lothar, Duplan, Martin Biosse, Briot, Karine, Collins, Michael T., Evans, Rachel, Florenzano, Pablo, Hawkins, Neil, Javaid, Muhammad Kassim, Lachmann, Robin, and Ward, Leanne M.

Subjects
DENTITION, EXPECTATION (Psychology), VITAMIN D, FIBROBLAST growth factors, CALCITRIOL
Abstract

X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D (“conventional therapy”) and a fully human monoclonal anti-FGF23 antibody, burosumab. The clinical benefit of conventional therapy in adults is limited, and poor tolerance and complications are common. Burosumab was first approved as a treatment for XLH in 2018 and its disease-modifying benefits in clinical trials in children suggest burosumab treatment could also alter the disease course in adults. Without long-term clinical data on multiple XLH-related sequelae available, the results of an elicitation exercise are reported, in which eight global experts in XLH posited how long-term treatment with burosumab is anticipated to impact the life course of clinical sequelae in adults with XLH. Based on their clinical experiences, the available evidence and their disease understanding, the experts agreed that some long-term benefits of using burosumab are likely in adults with XLH even if they have a misaligned skeleton from childhood. Burosumab treatment is anticipated to reduce the incidence of fractures and halt the progression of clinical sequelae associated with conventional therapy. While the trajectories for established dental abscesses are not expected to improve with burosumab treatment, dental abscess development may be prevented. Starting treatment with burosumab in childhood to increase the likelihood of an aligned skeleton and continuation into and throughout adulthood to maintain euphosphatemia may optimize patient outcomes, although future real-world investigation is required to support this hypothesis. [ABSTRACT FROM AUTHOR]

Published
2023
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31. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.

Author

Elkhateeb, Nour, Olivieri, Giorgia, Siri, Barbara, Boyd, Stewart, Stepien, Karolina M., Sharma, Reena, Morris, Andrew A. M., Hartley, Thomas, Crowther, Laura, Grunewald, Stephanie, Cleary, Maureen, Mundy, Helen, Chakrapani, Anupam, Lachmann, Robin, Murphy, Elaine, Santra, Saikat, Uudelepp, Mari‐Liis, Yeo, Mildrid, Bernhardt, Isaac, and Sudakhar, Sniya

Subjects
EPILEPSY, NATURAL history, AUTISM spectrum disorders, SEIZURES (Medicine), PEOPLE with epilepsy, MOVEMENT disorders
Abstract

Objective: Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, the second most common urea cycle defect and an inherited model of systemic nitric oxide deficiency. Patients present with developmental delay, epilepsy, and movement disorder. Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria. Methods: We conducted a retrospective study in seven tertiary metabolic centers in the UK, Italy, and Canada from 2020 to 2022, to assess the phenotype of epilepsy in argininosuccinic aciduria and correlate it with clinical, biochemical, radiological, and electroencephalographic data. Results: Thirty‐seven patients, 1–31 years of age, were included. Twenty‐two patients (60%) presented with epilepsy. The median age at epilepsy onset was 24 months. Generalized tonic‐clonic and focal seizures were most common in early‐onset patients, whereas atypical absences were predominant in late‐onset patients. Seventeen patients (77%) required antiseizure medications and six (27%) had pharmacoresistant epilepsy. Patients with epilepsy presented with a severe neurodebilitating disease with higher rates of speech delay (p =.04) and autism spectrum disorders (p =.01) and more frequent arginine supplementation (p =.01) compared to patients without epilepsy. Neonatal seizures were not associated with a higher risk of developing epilepsy. Biomarkers of ureagenesis did not differ between epileptic and non‐epileptic patients. Epilepsy onset in early infancy (p =.05) and electroencephalographic background asymmetry (p =.0007) were significant predictors of partially controlled or refractory epilepsy. Significance: Epilepsy in argininosuccinic aciduria is frequent, polymorphic, and associated with more frequent neurodevelopmental comorbidities. We identified prognostic factors for pharmacoresistance in epilepsy. This study does not support defective ureagenesis as prominent in the pathophysiology of epilepsy but suggests a role of central dopamine deficiency. A role of arginine in epileptogenesis was not supported and warrants further studies to assess the potential arginine neurotoxicity in argininosuccinic aciduria. [ABSTRACT FROM AUTHOR]

Published
2023
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35. 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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36. Rare missense variants in Tropomyosin‐4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding

Author

Stapley, Rachel J., Poulter, Natalie S., Khan, Abdullah O., Smith, Christopher W., Bignell, Patricia, Fratter, Carl, Lester, Will, Lowe, Gillian, Morgan, Neil V., Morgan, Neil, Watson, Steve, Harrison, Paul, Lordkipanidze, Marie, Mumford, Andrew D., Mundell, Stuart J., Gissen, Paul, Daly, Martina E., Clark, Justin, Williams, Mike, Motwani, Jayashree, Marshall, Dianne, Lawson, Natalie, Nyatanga, Priscilla, Mann, Pat, Kirwan, Julie, Percy, Charles, Green, Pam, Hupston, Helen, Nagapachetty, Koomaravel, Dwenger, Elizabeth, Rourke, Ann O, Pope, Martin, Edmead, Camillia, Greenway, April, Makris, Michael, Payne, Jeanette, Pavord, Sue, Gooding, Richard, Dattani, Rashesh, Grimley, Gerry Dolan, Charlotte, Stokley, Simone, Astwood, Emma, Longmuir, Karyn, Chang, Cherry, Foros, Merri, Kightley, Michelle, Trower, Linda, Thachil, Jecko, Bolton Maggs, Paula, Hay, Charlie, Pike, Gill, Will, Andrew, Grainger, John, Foulkes, Matt, Fareh, Mona, Talks, Kate, Biss, Tina, Kesteven, Patrick, Hanley, John, Vowles, Julie, Basey, Lesley, Knaggs, Kevin, Barnes, Michelle, Collins, Peter, Rayment, Rachel, Alikhan, Raza, Rebecca Morris, Ana Guerrero, Mansell, Dianne, Toh, Cheng Hock, Martlew, Vanessa, Murphy, Elaine, Lachmann, Robin, Rose, Peter, Chapman, Oliver, Lokare, Anand, Marshall, Kathryn, Khan, Naseem, Keeling, David, Curry, Nikki, Giangrande, Paul, Austin, Steve, Bevan, David, Alamelu, Jayanthi, Allsup, David, Fletcher, Andrew, Gladstone, Katherine, Fenwick, Jeanette, Woods, Philippa, Camp, Darren, James, Beki, Preston, Suzie, Spencer, Collette, Pike, Alexandra, Lai‐Wah, Chung, Thomas, Angela, Myers, Bethan, Evans, Gillian, Elliot, Kim, Davies, Karen, Graham, Charlotte, Foad, Miranda, and Smith, Jacqueline

Published
2022
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38. Relative acidic compartment volume as a lysosomal storage disorder--associated biomarker

Author

Vruchte, Danielle te, Speak, Anneliese O., Wallom, Kerri L., Eisa, Nada Al, Smith, David A., Hendriksz, Christian J., Simmons, Louise, Lachmann, Robin H., Cousins, Alison, Hartung, Ralf, Mengel, Eugen, Runz, Heiko, Beck, Michael, Amraoui, Yasmina, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M., Wassif, Christopher A., Rolfs, Arndt, Rimmele, Florian, Wright, Naomi, Taylor, Clare, Ramaswami, Uma, Cox, Timothy M., Hastings, Caroline, Jiang, Xuntian, Sidhu, Rohini, Ory, Daniel S., Arias, Begona, Jeyakumar, Mylvaganam, Sillence, Daniel J., Wraith, James E., Porter, Forbes D., Cortina-Borja, Mario, and Platt, Frances M.

Subjects
Medical research, Medicine, Experimental, Metabolism, Inborn errors of -- Diagnosis -- Care and treatment, Medical case management -- Research, Biological markers -- Identification and classification, Health care industry
Abstract

Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative disease. The relatively small number of patients with LSDs and lack of validated biomarkers are substantial challenges for clinical trial design. Here, we evaluated the use of a commercially available fluorescent probe, Lysotracker, that can be used to measure the relative acidic compartment volume of circulating B cells as a potentially universal biomarker for LSDs. We validated this metric in a mouse model of the LSD Niemann-Pick type C1 disease (NPC1) and in a prospective 5-year international study of NPC patients. Pediatric NPC subjects had elevated acidic compartment volume that correlated with age-adjusted clinical severity and was reduced in response to therapy with miglustat, a European Medicines Agency--approved drug that has been shown to reduce NPC1-associated neuropathology. Measurement of relative acidic compartment volume was also useful for monitoring therapeutic responses of an NPC2 patient after bone marrow transplantation. Furthermore, this metric identified a potential adverse event in NPC1 patients receiving i.v. cyclodextrin therapy. Our data indicate that relative acidic compartment volume may be a useful biomarker to aid diagnosis, clinical monitoring, and evaluation of therapeutic responses in patients with lysosomal disorders., Introduction Lysosomal storage disorders (LSDs) are a group of more than 60 inborn errors of metabolism that result in the expansion of the late endosomal/lysosomal (LE/Lys) compartment in cells (1-3). [...]

Published
2014
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39. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Author

Rüegger, Corinne M., Lindner, Martin, Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Das, Anibh, Gautschi, Matthias, Glahn, Esther M., Grünert, Sarah C., Hennermann, Julia, Hochuli, Michel, Huemer, Martina, Karall, Daniela, Kölker, Stefan, Lachmann, Robin H., Lotz-Havla, Amelie, Möslinger, Dorothea, Nuoffer, Jean-Marc, Plecko, Barbara, Rutsch, Frank, Santer, René, Spiekerkoetter, Ute, Staufner, Christian, Stricker, Tamar, Wijburg, Frits A., Williams, Monique, Burgard, Peter, and Häberle, Johannes

Published
2014
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44. Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia.

Author

Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, and Lachmann, Robin

Abstract

Objectives: To present the very long‐term follow up of patients with cobalamin A (cblA) deficiency. Methods: A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis of cblA deficiency. Results: We included 23 patients (mean age: 27 ± 7.6 years; mean follow‐up: 24.9 ± 7.6 years). Disease onset was mostly pediatric (78% < 1 year, median = 4 months) with acute neurologic deterioration (65%). Eight patients presented with chronic symptoms, and one had an adult‐onset mild cblA deficiency. Most of the patients (61%) were initially classified as vitamin B12‐unresponsive methylmalonic aciduria (MMA); in vitro B12 responsiveness was subsequently found in all the tested patients (n = 13). Initial management consisted of protein restriction (57%), B12 (17%), or both (26%). The main long‐term problems were intellectual disability (39%) and renal failure (30%). However, 56.5% of the patients were living independently. Intellectual disability was equally distributed among the initial treatment groups, while renal failure (moderate and beginning at the age of 38 years) was present in only one out of seven patients initially treated with B12. Conclusions: We provide a detailed picture of the long‐term outcome of a series of adult cblA patients, mostly diagnosed before the enzymatic and molecular era. We confirm that about 35% of the patients do not present acutely, underlining the importance of measuring MMA in any case of unexplained chronic renal failure, intellectual disability, or growth delay. In addition, we describe a patient with a milder adult‐onset form. Early B12 supplementation seems to protect from severe renal insufficiency. [ABSTRACT FROM AUTHOR]

Published
2022
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48. Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

Author

te Vruchte, Danielle, Speak, Anneliese O., Wallom, Kerri L., Al Eisa, Nada, Smith, David A., Hendriksz, Christian J., Simmons, Louise, Lachmann, Robin H., Cousins, Alison, Hartung, Ralf, Mengel, Eugen, Runz, Heiko, Beck, Michael, Amraoui, Yasmina, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M., Wassif, Christopher A., Rolfs, Arndt, Rimmele, Florian, Wright, Naomi, Taylor, Clare, Ramaswami, Uma, Cox, Timothy M., Hastings, Caroline, Jiang, Xuntian, Sidhu, Rohini, Ory, Daniel S., Arias, Begona, Jeyakumar, Mylvaganam, Sillence, Daniel J., Wraith, James E., Porter, Forbes D., Cortina-Borja, Mario, and Platt, Frances M.

Published
2014
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