About: Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency
UMLS_CUI
  • C0342784
Contributing_Source
  • NICHD
FULL_SYN
  • Very Long Chain Acyl-Coenzyme A Dehydrogenase DeficiencySYNCI
  • VLCADABNCI
  • Very Long Chain Acyl-Coenzyme A Dehydrogenase DeficiencySYNICHD
  • VLCADSYNICHD
  • Acyl-CoA Dehydrogenase, Very Long-Chain DeficiencyPTNCI
  • Very Long Chain Acyl-CoA Dehydrogenase DeficiencyPTNICHD
DEFINITION
  • An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis.NCI
code
  • C98647
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