Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency.
Fetal defects in mitochondrial beta-oxidation have been linked with an increased risk for acute fatty liver of pregnancy and preeclampsia-related conditions. A woman with previously undiagnosed carnitine palmitoyltransferase 1 deficiency experienced hemolysis, elevated liver enzymes, low platelets-like syndrome late in her first pregnancy with an unaffected fetus. Carnitine palmitoyltransferase 1 deficiency should be considered as a potential cause of life-threatening complications of pregnancy.
Ylitalo
Kati
K
Mikkeli Central Hospital, Finland.
Vänttinen
Tuomo
T
Halmesmäki
Erja
E
Tyni
Tiina
T
D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D011296:Prenatal Diagnosis
D002334:Carnitine O-Palmitoyltransferase