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Carnitine palmitoyltransferase II deficiency

Disease definition

Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms).

ORPHA:157

  • Synonym(s):
    • CPT2
    • CPTII
    • Carnitine palmitoyltransferase deficiency type 2
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E71.3
  • OMIM: 255110  600649  608836
  • UMLS: C0342790
  • MeSH: C535589
  • GARD: 1121
  • MedDRA: -

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