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skos:definition |
MSH: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).,NCI: A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia.,NCI: A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of the enzyme electron transfer flavoprotein or the enzyme electron transfer flavoprotein dehydrogenase. It results in metabolic acidosis, hypoglycemia, and behavioral changes. Additional abnormalities include
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