American journal of obstetrics and gynecology, 2005-06, Vol.192 (6), p.2060-2062
2005
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency
- Ist Teil von
- American journal of obstetrics and gynecology, 2005-06, Vol.192 (6), p.2060-2062
- Ort / Verlag
- Philadelphia, PA: Mosby, Inc
- Erscheinungsjahr
- 2005
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Fetal defects in mitochondrial β-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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0002-9378eISSN: 1097-6868DOI: 10.1016/j.ajog.2004.11.005Titel-ID: cdi_proquest_miscellaneous_67958412
- Format
- –
- Schlagworte
- Adult, Biological and medical sciences, Carnitine O-Palmitoyltransferase - deficiency, Carnitine palmitoyltransferase, Diagnosis, Differential, Errors of metabolism, Fatty acid oxidation, Female, Gynecology. Andrology. Obstetrics, HELLP syndrome, Humans, Infant, Newborn, Lipid Metabolism, Inborn Errors - diagnosis, Lipids (lysosomal enzyme disorders, storage diseases), Medical sciences, Metabolic diseases, Pregnancy, Pregnancy Complications - diagnosis, Prenatal Diagnosis