SNP Shot: Genomic Insights

Carnitine-acylcarnitine translocase (CACT) deficiency is a metabolic disorder where the body struggles to utilize specific fats for energy, especially when fasting. This condition often manifests shortly after birth, presenting with symptoms such as respiratory distress, seizures, and heart rhythm abnormalities (arrhythmias). Characteristically, affected individuals experience low blood sugar (hypoglycemia) coupled with a deficiency in ketones (hypoketotic hypoglycemia), which are crucial energy sources produced from fat breakdown. Furthermore, CACT deficiency often leads to elevated ammonia levels in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakening of the heart muscle (cardiomyopathy).

The severe form of CACT deficiency is frequently fatal in infancy. However, some individuals experience a milder form, with symptoms appearing later in early childhood. These individuals remain vulnerable to liver failure, neurological damage, coma, and the risk of sudden death.

Inheritance:

CACT deficiency follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. Parents who each carry one copy of the mutated gene are typically asymptomatic carriers.