Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Disease ID: disease_node_11825
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| Dbxref | 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 |
|---|---|
| Subclassof | DOID_655 |
| Data Source | DOID, MESH |
| Synonyms | MAD deficiency, MADD, electron transfer flavoprotein deficiency, electron transfer flavoprotein ubiquinone oxidoreductase deficiency, glutaric acidemia type 2, glutaric aciduria type 2 |
| Mesh Id | D054069 |
| Mesh Label | Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
| Mesh Subclassof | D028361, D000592 |
| Doid Label | multiple acyl-CoA dehydrogenase deficiency |
| Doid Description | 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. |
| Has Phenotype | HP_0032245 |
| Disease Node Id | disease_node_11825 |
| Doid Id | DOID_0060358 |
| Disease Has Basis In | SO_0001537 |
| Label | Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease)