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| Term | multiple acyl-CoA dehydrogenase deficiency | ID (Ontology) | DOID:0060358 (Human Disease) |
| Definition | An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. | ||
| Also Known As | "electron transfer flavoprotein deficiency" ; "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" ; "glutaric acidemia type 2" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease of metabolism__ genetic disease________| inherited metabolic disorder |__multiple acyl-CoA dehydrogenase deficiency 8 rec. |
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| Is a | inherited metabolic disorder | ||
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ICD10CM:E71.313 MESH:D054069 MIM:231680 NCI:C84907 ORDO:26791 SNOMEDCT_US_2023_03_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405 |
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