OBO ID: DOID:0060358
Term Name: multiple acyl-CoA dehydrogenase deficiency Search Ontology:
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
  • NCI:C84907
  • OMIM:231680
  • ORDO:26791
  • SNOMEDCT_US_2018_03_01:22886006
  • UMLS_CUI:C0268596
  • UMLS_CUI:C1856401
  • UMLS_CUI:C1856403
  • UMLS_CUI:C1856405
Ontology: Human Disease   (DOID:0060358)
Relationships
is a type of:
OTHER multiple acyl-CoA dehydrogenase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ETFA Glutaric acidemia IIA 231680
ETFB Glutaric acidemia IIB 231680
ETFDH Glutaric acidemia IIC 231680
PHENOTYPE No data available

CITATIONS (2)