Carnitine palmitoyltransferase deficiency in pregnancy.
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.
Ramsey
Patrick S
PS
Center for Research in Women's Health, University of Alabama at Birmingham, Department of Obstetrics and Gynecology, Birmingham, Alabama 35249-7333, USA. ramsey_patrick@hotmail.com
Biggio
Joseph R
JR
D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003402:Creatine Kinase / Q000097:blood; D004040:Dietary Carbohydrates / Q000008:administration & dosage; D005260:Female; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology* / Q000628:therapy; D047928:Premature Birth
D004040:Dietary Carbohydrates; D002334:Carnitine O-Palmitoyltransferase; D003402:Creatine Kinase