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Carnitine palmitoyl transferase 1A deficiency

Disease definition

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

ORPHA:156

  • Synonym(s):
    • CPT1A deficiency
    • Carnitine palmitoyl transferase IA deficiency
    • Hepatic carnitine palmitoyl transferase 1 deficiency
    • Hepatic carnitine palmitoyl transferase I deficiency
    • L-CPT1 deficiency
    • L-CPTI deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 255120
  • UMLS: -
  • MeSH: -
  • GARD: 1120
  • MedDRA: -

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