Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
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DOI: 10.1016/j.nmd.2021.07.006
Abstract: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a heterogeneous group of inborn error of metabolic disease affecting the oxidation of fatty acids and amino acids, and choline metabolism. Genes involved in electrons transfer to the mitochondrial… read more here.
Keywords: dehydrogenase deficiency; flad1; acyl coa; coa dehydrogenase ... See more keywords