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Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Disease definition

A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.


Classification level: Disorder
  • Synonym(s):
    • LCHAD deficiency
    • LCHADD
    • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 609016
  • UMLS: C0342786  C1969443
  • MeSH: -
  • GARD: 6867
  • MedDRA: -

Detailed information

Article for general public


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