Chemical diagnosis of dihydrolipoyl dehydrogenase deficiency.
D001928:Brain Diseases, Metabolic / Q000201:enzymology*; D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology*; D008297:Male; D008375:Maple Syrup Urine Disease / Q000201:enzymology*
D008058:Dihydrolipoamide Dehydrogenase