Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

ABSTRACT: Glutaric acidemia type 2 (GA2), also called multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism resulting in excretion of multiple organic acids and glycine conjugates as well as elevation of various plasma acylcarnitine species (C4-C18). It is caused by mutations in the ETFA, ETFB, or ETFDH genes which are involved in the transfer of electrons from 11 flavin-containing dehydrogenases to Coenzyme Q₁₀ (CoQ₁₀ ) of the mitochondrial electron transport chain (ETC). We report a patient who was originally reported as the first case with primary myopathic CoQ₁₀ deficiency when he presented at 11.5 years with exercise intolerance and myopathy that improved after treatment with ubiquinone a

SUBMITTER: Xiao C 

PROVIDER: S-EPMC8543298 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature