Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut
| العنوان: | Delineating the clinical spectrum of isolated methylmalonic acidurias: |
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| المؤلفون: | Sven F. Garbade, Matthias R. Baumgartner, Additional Contributors from E-Imd, Friederike Hörster, Tanja Plessl, Ali Tunç Tuncel, Stefan Kölker, Florian Gleich, Sean Froese |
| المصدر: | Journal of Inherited Metabolic Disease. 44:193-214 |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Methylmalonic acidemia, Methylmalonic acid, Renal function, Urine, Mitochondrial Membrane Transport Proteins, Gastroenterology, Cobalamin, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Humans, Child, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Methylmalonyl-CoA Mutase, medicine.disease, Hydroxocobalamin, 3. Good health, Vitamin B 12, Cross-Sectional Studies, Methylmalonic aciduria, chemistry, Mutation, Kidney Failure, Chronic, Chronic renal failure, Female, business, Metabolism, Inborn Errors, Glomerular Filtration Rate, Methylmalonic Acid, medicine.drug |
| الوصف: | Introduction Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. Method Cross-sectional analysis of data from the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. 2010 12 01). Results Data from 28 cblA and 95 mut patients, in most cases confirmed by mutation analysis (including 4 new mutations for cblA and 19 new mutations for mut). Metabolic crisis is the predominant symptom leading to diagnosis in both groups. Biochemical disturbances during the first crisis were similar in both groups, as well as the age at diagnosis. Z-scores of body height and body weight were similar in both groups at birth, but were significantly lower in the mut group at the time of last visit. Glomerular filtration rate was significantly higher in cblA; and as a consequence, chronic renal failure and related complications were significantly less frequent and renal function could be preserved even in older patients. Neurological complications were predominantly found in the mut subgroup. Methylmalonic acid (MMA) levels in urine and plasma were significantly lower in cblA. 27/28 cblA patients were reported to be responsive to cobalamin, only 86% of cblA patients were treated with i.m. hydroxocobalamin. 73% of cblA and 98% of mut patients followed a calculated diet with amino acid supplements in 27% (cblA) and 69% (mut). During the study interval 6 patients from the mut group died, while all cblA patients survived. Conclusion Although similar at first, cblA patients respond to hydroxocobalamin treatment, subsequently show significantly lower levels of MMA and a milder course than mut patients. This article is protected by copyright. All rights reserved. |
| تدمد: | 1573-2665 0141-8955 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a828f9436689124e33f068ca8beae626Test https://doi.org/10.1002/jimd.12297Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a828f9436689124e33f068ca8beae626 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15732665 01418955 |
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