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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).

ORPHA:228302

  • 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
  • OMIM: 255110
  • UMLS: C1833508
  • MeSH: -
  • GARD: -
  • MedDRA: -

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