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Carnitine-acylcarnitine translocase deficiency

Disease definition

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.

ORPHA:159

  • Synonym(s):
    • CACT deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 212138
  • UMLS: C0342791
  • MeSH: -
  • GARD: 1123
  • MedDRA: -

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