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

@article{Boer2000HeterozygosityFT,
  title={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},
  author={Margarethe E J Den Boer and Lodewijk van Ijlst and Frits A. Wijburg and Wendy Oostheim and Michiel A Van Werkhoven and Marielle G Van Pampus and Hugo S. A. Heymans and Ronald J. A. Wanders},
  journal={Pediatric Research},
  year={2000},
  volume={48},
  pages={151-154}
}
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 α-subunit of the mitochondrial trifunctional protein harboring LCHAD activity is found in 87% of the alleles of patients. LCHAD is considered a rare disorder… CONTINUE READING

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Common missense mutation G 1528 C in long - chain 3 - hydroxyacyl - CoA dehydrogenase deficiency

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