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Carnitine palmitoyl transferase II deficiency, severe infantile form

Disease definition

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

ORPHA:228305

  • Synonym(s):
    • CPT2, hepatocardiomuscular form
    • CPT2, severe infantile form
    • CPTII, hepatocardiomuscular form
    • CPTII, severe infantile form
    • Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
    • Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
    • Carnitine palmitoyl transferase deficiency type 2, severe infantile form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 600649
  • UMLS: C1833511
  • MeSH: -
  • GARD: -
  • MedDRA: -

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