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multiple acyl-CoA dehydrogenase deficiency

Go to external page http://purl.obolibrary.org/obo/DOID_0060358

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. [ url:http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii url:https://www.ncbi.nlm.nih.gov/pubmed/12815589 http://purl.obolibrary.org/obo/ECO_0007638 url:https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 url:https://www.ncbi.nlm.nih.gov/pubmed/22580358 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D054069
  • UMLS_CUI:C1856405
  • UMLS_CUI:C0268596
  • UMLS_CUI:C1856403
  • MIM:231680
  • SNOMEDCT_US_2023_03_01:22886006
  • NCI:C84907
  • ICD10CM:E71.313
  • ORDO:26791
  • UMLS_CUI:C1856401
Subsets

DO_rare_slim, NCIthesaurus

acronym
MADD

created by

elvira

creation date

2015-08-20T16:23:47Z

has obo namespace

disease_ontology

id

DOID:0060358