What genes are related to carnitine palmitoyltransferase 2 deficiency?

Mutations in the CPT2 gene cause carnitine palmitoyltransferase 2 deficiency. Mutations in the CPT2 gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase 2. Together with carnitine, this enzyme helps release long-chain fatty acids from a particular transport enzyme.

If carnitine palmitoyltransferase 2 is defective, long-chain fatty acids from food and fats stored in the body cannot be broken down and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as myalgia, weakness, and hypoglycemia. Excess long-chain fatty acids may build up in tissues, damaging the heart, liver, and muscles and causing more serious complications.

Read more about the CPT2 gene. More.

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