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Very long chain acyl-CoA dehydrogenase deficiency

Disease definition

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

ORPHA:26793

  • Synonym(s):
    • VLCAD deficiency
    • VLCADD
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 201475
  • UMLS: -
  • MeSH: -
  • GARD: 5508
  • MedDRA: -

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