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Indian Journal of Gastroenterology
Published in: Indian Journal of Gastroenterology 4/2014

01-07-2014 | Letter

Absence of G1528C mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase in four Indian patients with pregnancy-related liver disease

Authors: V. Raghupathy, Ashish Goel, Kavitha R. Thangaraj, C. E. Eapen, K. A. Balasubramanian, Annie Regi, Ruby Jose, Santosh J. Benjamin, Anup Ramachandran

Published in: Indian Journal of Gastroenterology | Issue 4/2014

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Excerpt

Sir, …
Literature
1.
Knight M, Nelson-Piercy C, Kurinczuk JJ, Spark P, Brocklehurst P. A prospective national study of acute fatty liver of pregnancy in the UK. Gut. 2008;57:951–6.PubMedCrossRef
2.
3.
Treem WR, Shoup ME, Hale DE, et al. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol. 1996;91:2293–300.PubMed
4.
Ljist L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta. 1994;1215:347–50.CrossRef
5.
Tyni T, Palotie A, Viinikka L, et al. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr. 1997;130:67–76.PubMedCrossRef
6.
Goel A, Ramakrishna B, Zachariah U, et al. How accurate are the Swansea criteria to diagnose acute fatty liver of pregnancy in predicting hepatic microvesicular steatosis? Gut. 2011;60:138–9; author reply 39–40.
7.
Rakheja D, Bennett MJ, Foster BM, Domiati-Saad R, Rogers BB. Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age. Placenta. 2002;23:447–50.PubMedCrossRef
8.
Ljist L, Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest. 1996;98:1028–33.CrossRef
9.
Kong XF, Zhang XX, Yu YY, et al. No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives. J Gastroenterol Hepatol. 2007;22:2107–11.PubMedCrossRef
10.
Innes AM, Seargeant LE, Balachandra K, et al. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res. 2000;47:43–5.PubMedCrossRef
Metadata
Title
Absence of G1528C mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase in four Indian patients with pregnancy-related liver disease
Authors
V. Raghupathy
Ashish Goel
Kavitha R. Thangaraj
C. E. Eapen
K. A. Balasubramanian
Annie Regi
Ruby Jose
Santosh J. Benjamin
Anup Ramachandran
Publication date
01-07-2014
Publisher
Springer India
Published in
Indian Journal of Gastroenterology / Issue 4/2014
Print ISSN: 0254-8860
Electronic ISSN: 0975-0711
DOI
https://doi.org/10.1007/s12664-013-0408-0

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