Carnitine- Acylcarnitine translocase (CACT)

Gene
SLC25A20
Location
3p21.31
Disease
Carnitine- Acylcarnitine translocase (CACT)
Description
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).
Signs and Symptoms
Many infants with CACT deficiency do not survive the newborn period with out treatment. Signs and symptoms include low blood sugar, low levels of ketones, excess ammonia in the blood, enlarged liver, and weakened heart muscles.
Type
Fatty Acid Disorder
Category
Secondary

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