About: Multiple Acyl-CoA Dehydrogenase Deficiency     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Multiple Acyl-CoA Dehydrogenase Deficiency
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Multiple Acyl-CoA Dehydrogenase Deficiency
UMLS_CUI
  • C0268596
FULL_SYN
  • Multiple Acyl Coenzyme A Dehydrogenase DeficiencySYNCI
  • Multiple Acyl-CoA Dehydrogenase DeficiencyPTNCI
DEFINITION
  • A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia.NCI
code
  • C84907
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