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Carnitine palmitoyl transferase II deficiency, neonatal form

Disease definition

The neonatal 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 lethal form of the disease which presents with multisystem failure.

ORPHA:228308

  • Synonym(s):
    • CPT2, lethal systemic form
    • CPT2, neonatal form
    • CPTII, lethal systemic form
    • CPTII, neonatal form
    • Carnitine palmitoyl transferase II deficiency, lethal systemic form
    • Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
    • Carnitine palmitoyl transferase deficiency type 2, neonatal form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E71.3
  • OMIM: 608836
  • UMLS: C1833518
  • MeSH: -
  • GARD: -
  • MedDRA: -

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