Heterogenous clinical landscape in a consanguineous malonic aciduria family
| Autor: | Stéphanie Torre, Gajja S. Salomons, Soumeya Bekri, Alice Goldenberg, Stéphane Marret, Bénédicte Sudrié-Arnaud, Abdellah Tebani, Lenaig Abily-Donval, Sarah Snanoudj |
|---|---|
| Přispěvatelé: | Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, ANS - Amsterdam Neuroscience |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty QH301-705.5 Cardiomyopathy Case Report Disease Inborn errors of metabolism Hypoglycemia Malonic acid Catalysis Inorganic Chemistry chemistry.chemical_compound medicine Physical and Theoretical Chemistry Biology (General) Molecular Biology QD1-999 MLYCD Spectroscopy business.industry Organic Chemistry malonic aciduria Beta-oxidation Dilated cardiomyopathy Metabolic acidosis General Medicine medicine.disease Computer Science Applications Chemistry chemistry Inborn error of metabolism Failure to thrive medicine.symptom business |
| Zdroj: | International Journal of Molecular Sciences International journal of molecular sciences, 22(23):12633. Multidisciplinary Digital Publishing Institute (MDPI) International Journal of Molecular Sciences, Vol 22, Iss 12633, p 12633 (2021) |
| ISSN: | 1661-6596 |
| Popis: | Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency. This enzyme is encoded by the MLYCD (Malonyl-CoA Decarboxylase) gene, and the disease has an autosomal recessive inheritance. Malonic aciduria is characterized by systemic clinical involvement, including neurologic and digestive symptoms, metabolic acidosis, hypoglycemia, failure to thrive, seizures, developmental delay, and cardiomyopathy. We describe here two index cases belonging to the same family that, despite an identical genotype, present very different clinical pictures. The first case is a boy with neonatal metabolic symptoms, abnormal brain MRI, and dilated cardiomyopathy. The second case, the cousin of the first patient in a consanguineous family, showed later symptoms, mainly with developmental delay. Both patients showed high levels of malonylcarnitine on acylcarnitine profiles and malonic acid on urinary organic acid chromatographies. The same homozygous pathogenic variant was identified, c.346C > T; p. (Gln116*). We also provide a comprehensive literature review of reported cases. A review of the literature yielded 52 cases described since 1984. The most common signs were developmental delay and cardiomyopathy. Increased levels of malonic acid and malonylcarnitine were constant. Presentations ranged from neonatal death to patients surviving past adolescence. These two cases and reported patients in the literature highlight the inter- and intrafamilial variability of malonic aciduria. |
| Databáze: | OpenAIRE |
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