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multiple acyl-CoA dehydrogenase deficiency
Summary
- Synonym
-
- MAD deficiency
- MADD
- electron transfer flavoprotein deficiency
- electron transfer flavoprotein ubiquinone oxidoreductase deficiency
- glutaric acidemia type 2
- glutaric aciduria type 2
- 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.
- Super Class
- inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0060358
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
