| Metadata | |
|---|---|
| ID | DOID:0060358 |
| Name | multiple acyl-CoA dehydrogenase deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/22580358, https://www.ncbi.nlm.nih.gov/pubmed/12815589, https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2, http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii |
| Xrefs |
SNOMEDCT_US_2023_03_01:22886006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
electron transfer flavoprotein deficiency [EXACT] electron transfer flavoprotein ubiquinone oxidoreductase deficiency [EXACT] glutaric acidemia type 2 [EXACT] glutaric aciduria type 2 [EXACT] MAD deficiency [EXACT] MADD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant has phenotype some Abnormal metabolism |