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Carnitine palmitoyl transferase II deficiency, myopathic form

Disease definition

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).


Classification level: Subtype of disorder
  • Synonym(s):
    • CPT2, adult-onset form
    • CPT2, myopathic form
    • CPTII, adult-onset form
    • CPTII, myopathic form
    • Carnitine palmitoyl transferase II deficiency, adult-onset form
    • Carnitine palmitoyl transferase deficiency type 2, adult-onset form
    • Carnitine palmitoyl transferase deficiency type 2, myopathic form
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: E71.3
  • ICD-11: 5C52.00
  • OMIM: 255110
  • UMLS: C1833508
  • MeSH: C563461
  • GARD: -
  • MedDRA: -

Detailed information

General public


Disease review articles

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.