Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency

BJOG: An International Journal of Obstetrics and Gynaecology

Volumn 114, Issue 8, 2007, Pages 1028-1030

  Geven, W B ^a   Niezen Koning, K E ^b   Timmer, A ^b   Van Loon, A J ^a   Wanders, R J A ^c   Van Spronsen, F J ^b  

^a MARTINI HOSPITAL   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE CARNITINE TRANSLOCASE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CARDIOLIPIN ANTIBODY; ENZYME; LACTATE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD PRESSURE; CARDIOTOCOGRAPHY; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CASE REPORT; ENZYME DEFICIENCY; FEMALE; HEART RATE; HUMAN; HUMAN TISSUE; MALE; NEWBORN; PHYSICAL EXAMINATION; PREECLAMPSIA; PRESCHOOL CHILD; PRIORITY JOURNAL; QRS COMPLEX; SPONTANEOUS ABORTION; THROMBOPHILIA;

ABORTION, HABITUAL; CARNITINE ACYLTRANSFERASES; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MALE; PRE-ECLAMPSIA; PREGNANCY;

EID: 34447302839     PISSN: 14700328     EISSN: 14710528     Source Type: Journal    
DOI: 10.1111/j.1471-0528.2007.01411.x     Document Type: Article

References (18)

1. Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P, Ijlst L, et al. Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta 1999 281 : 1 17.
2. Ijlst L, Ruiter JPN, Roermund van CWT, Wanders RJA. Mitochondrial carnitine/acylcarnitine translocase deficiency. In : Eaton S, Quant PA, editors. New Avenues of Research in Fatty Acid Oxidation and Ketone Body Metabolism. London : FAOXK Press 2001. pp. 33 7.
3. Dekker GA, Sibai BM. Etiology and pathogenesis of preeclampsia: current concepts. Am J Obstet Gynecol 1998 179 : 1359 75.
4. Xiong X, Fraser WD, Demianczuk NN. History of abortion, preterm, term birth and risk of preeclampsia: a population based study. Am J Obstet Gynecol 2002 187 : 1013 18.
5. Henriksen T. The role of lipid oxidation and oxidative lipid derivatives in the development of preeclampsia. Semin Perinatol 2000 24 : 29 32.
6. Redman CW, Sargent IL. Placental debris, oxidative stress and pre-eclampsia. Placenta 2000 21 : 597 602.
7. Oey NA, Den Boer MEJ, Ruiter JP, Wanders RJ, Duran M, Waterham HR, et al. High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease. J Inherit Metab Dis 2003 26 : 385 92.
8. Shekhawat P, Bennet MJ, Sadovsky Y, Nelson DM, Rakheja D, Strauss AW. Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation and maternal liver diseases. Am J Physiol Endocrinol Metab 2003 284 : E1098 105.
9. Ibdah JA, Bennet MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, et al. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 1999 340 : 1723 31.
10. Matern D, Hart P, Murtha AP, Vockley J, Gregersen N, Millington DS, et al. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 2001 138 : 585 8.
11. Nelson J, Lewis B, Walters B. The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2000 23 : 518 19.
12. Innes AM, Seargeant LE, Balachandra K, Roe CR, Wanders RJ, Ruiter JP, et al. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res 2000 47 : 43 5.
13. Tein I. Metabolic disease in the fetus predisposes to maternal complications of pregnancy. Pediatr Res 2000 47 : 6 8.
14. Rubio-Gozalbo ME, Vos P, Forget PP, Van Der Meer SB, Wanders RJ, Waterham HR, et al. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. Acta Paediatr 2003 92 : 501 4.
15. Den Boer ME, Rinaldo P, Hale DE, Stanley CA, Millington DS, Hyans JS, et al. Heterozygosity for common LCHAD mutation (1528G>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low. Pediatr Res 2000 48 : 151 4.
16. Treem WR, Rinaldo P, Hale DE, Stanley CA, Millington DS, Hyams JS, et al. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Hepatology 1994 19 : 339 45.
17. Mak IT, Kramer JH, Weglicki WB. Potentiation of free radical-induced lipid peroxidation injury to the sarcolemmal membranes by lipid amphiphiles. J Biol Chem 1986 261 : 1153 7.
18. Thiele IGI, Niezen-Koning KE, van Gennip AH, Aarnoudse JG. Increased plasma carnitine concentrations in preeclampsia. Obstet Gynecol 2004 103 : 876 80.