Carnitine palmitoyltransferase deficiency in pregnancy

Abstract

Carnitine palmitoyltransferase (CPT) deficiencies are among the most common causes of inherited fatty acid oxidation disorders characterized by hypoglycemia-induced rhabdomyolysis. There is limited experience with the management of this condition in pregnancy. We report a case and management of a woman with CPT deficiency type II during pregnancy.

Keywords:

• Carnitine palmitoyltransferase deficiency
• inborn-error
• fatty acid oxidation
• pregnancy