Carnitine Palmitoyltransferase I Deficiency - Genetics

Genetics

Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency.

Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may build up in tissues, damaging the liver, heart, and brain.

This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder.