multiple acyl-CoA dehydrogenase deficiency

Term ID

DOID:0060358

Synonyms

• electron transfer flavoprotein deficiency
• electron transfer flavoprotein ubiquinone oxidoreductase deficiency
• glutaric acidemia type 2
• glutaric aciduria type 2
• MAD deficiency
• MADD

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. (4)

References

• 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

Ontology

Human Disease   ( DOID:0060358 )