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Heterozygosity for the 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 Aug; 48(2):151-4.PR

Abstract

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation. Apart from life-threatening metabolic derangement with hypoketotic hypoglycemia, patients often show liver disease, cardiomyopathy, and neuropathy. A common mutation (1528G>C) in the gene coding for the alpha-subunit of the mitochondrial trifunctional protein harboring LCHAD activity is found in 87% of the alleles of patients. LCHAD is considered a rare disorder with only 63 patients reported in the literature. Whether this is due to a truly low prevalence of the disorder or because many patients remain unrecognized as a result of aspecific symptomatology is not clear. A remarkable association between LCHAD deficiency and the hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome, which is a severe complication of pregnancy, has been reported. Because of this, we studied the frequency of the common LCHAD mutation in the Dutch population by analyzing 2,047 Guthrie cards and 113 women who had suffered from HELLP syndrome. To be able to perform this large-scale study in dried bloodspots, we developed a new sensitive PCR-restriction fragment length polymorphism method. The carrier frequency for the common LCHAD mutation in the Dutch population was found to be low (1:680), consistent with the observed low incidence of the disorder. In the group of women with a history of HELLP syndrome, the prevalence of the common LCHAD mutation was also low (1:113). We conclude that LCHAD deficiency is, indeed, a rare disorder and that heterozygosity for the common mutation is not a major cause of the HELLP syndrome.

Authors+Show Affiliations

Department of Pediatrics, Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10926288

Citation

den Boer, M E., et al. "Heterozygosity for the 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." Pediatric Research, vol. 48, no. 2, 2000, pp. 151-4.
den Boer ME, Ijlst L, Wijburg FA, et al. Heterozygosity for the 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(2):151-4.
den Boer, M. E., Ijlst, L., Wijburg, F. A., Oostheim, W., van Werkhoven, M. A., van Pampus, M. G., Heymans, H. S., & Wanders, R. J. (2000). Heterozygosity for the 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. Pediatric Research, 48(2), 151-4.
den Boer ME, et al. Heterozygosity for the 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(2):151-4. PubMed PMID: 10926288.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Heterozygosity for the 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. AU - den Boer,M E, AU - Ijlst,L, AU - Wijburg,F A, AU - Oostheim,W, AU - van Werkhoven,M A, AU - van Pampus,M G, AU - Heymans,H S, AU - Wanders,R J, PY - 2000/8/6/pubmed PY - 2001/2/28/medline PY - 2000/8/6/entrez SP - 151 EP - 4 JF - Pediatric research JO - Pediatr Res VL - 48 IS - 2 N2 - Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation. Apart from life-threatening metabolic derangement with hypoketotic hypoglycemia, patients often show liver disease, cardiomyopathy, and neuropathy. A common mutation (1528G>C) in the gene coding for the alpha-subunit of the mitochondrial trifunctional protein harboring LCHAD activity is found in 87% of the alleles of patients. LCHAD is considered a rare disorder with only 63 patients reported in the literature. Whether this is due to a truly low prevalence of the disorder or because many patients remain unrecognized as a result of aspecific symptomatology is not clear. A remarkable association between LCHAD deficiency and the hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome, which is a severe complication of pregnancy, has been reported. Because of this, we studied the frequency of the common LCHAD mutation in the Dutch population by analyzing 2,047 Guthrie cards and 113 women who had suffered from HELLP syndrome. To be able to perform this large-scale study in dried bloodspots, we developed a new sensitive PCR-restriction fragment length polymorphism method. The carrier frequency for the common LCHAD mutation in the Dutch population was found to be low (1:680), consistent with the observed low incidence of the disorder. In the group of women with a history of HELLP syndrome, the prevalence of the common LCHAD mutation was also low (1:113). We conclude that LCHAD deficiency is, indeed, a rare disorder and that heterozygosity for the common mutation is not a major cause of the HELLP syndrome. SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/10926288/Heterozygosity_for_the_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_ L2 - https://doi.org/10.1203/00006450-200008000-00006 DB - PRIME DP - Unbound Medicine ER -