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Diseases
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
multiple acyl coenzyme a dehydrogenase deficiency
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency
- Standard Disease Name
- multiple acyl coenzyme a dehydrogenase deficiency
- MeSH Tree
- No data
- ICD-10
- E71.313
Identifiers
- DO ID
- No data
- MeSH ID
- D054069
- OMIM ID
- 231680
- UMLS ID
- C0268596
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D: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 brain malformations, facial malformations, dilated cardiomyopathy, and hepatomegaly.|NCI2016_02D: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.|MSH2017_2016_08_12: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).