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GENATLAS PHENOTYPE
last update : 5/07/2006
Symbol CACT
Location 3p21.31
Name carnitine-acylcarnitine translocase deficiency
Corresponding gene SLC25A20
related resource MITOP database
Main clinical features
  • hypoketotic hypoglycemia, seizures, irregular heartbeat and apnea, coma induced by fasting in early infancy, also presenting with cardiac or muscle involvement, with low free carnitine and elevated C16-C18
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name carnitine/acylcarnitine translocase (CACT)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein