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Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
Open accessAbstract
We describe a metabolic defect in bile acid synthesis involving a deficiency in 7alpha-hydroxylation due to a mutation in the gene for the microsomal oxysterol 7alpha-hydroxylase enzyme, active in the acidic pathway for bile acid synthesis. The defect, identified in a 10-wk-old boy presenting with severe cholestasis, cirrhosis, and liver synthetic failure, was established by fast atom bombardment ionization-mass spectrometry, which revealed elevated urinary bile acid excretion, a mass spectrum with intense ions at m/z 453 and m/z 510 corresponding to sulfate and glycosulfate conjugates of unsaturated monohydroxy-cholenoic acids, and an absence of primary bile acids. Gas chromatography-mass spectrometric analysis confirmed the major products of hepatic synthesis to be 3beta-hydroxy-5-cholenoic and 3beta-hydroxy-5-cholestenoic acids, which accounted for 96% of the total serum bile acids. Levels of 27-hydroxycholesterol were > 4,500 times normal. The biochemical findings were consistent with a deficiency in 7alpha-hydroxylation, leading to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. Hepatic microsomal oxysterol 7alpha-hydroxylase activity was undetectable in the patient. Gene analysis revealed a cytosine to thymidine transition mutation in exon 5 that converts an arginine codon at position 388 to a stop codon. The truncated protein was inactive when expressed in 293 cells. These findings indicate the quantitative importance of the acidic pathway in early life in humans and define a further inborn error in bile acid synthesis as a metabolic cause of severe cholestatic liver disease.
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Metadata
- Authors
- Setchell, K. D., Schwarz, M., O'Connell, N. C., Lund, E. G., Davis, D. L., Lathe, R., Thompson, H. R., Weslie Tyson, R., Sokol, R. J., & Russell, D. W.
- Affiliations
- Cincinnati Children's Hospital Medical Center (US)
- The University of Texas Southwestern Medical Center (US)
- University of Edinburgh (GB)
- University of Colorado Denver (US)
- Venue
- Journal of Clinical Investigation
- Published
- 1998-11-01
- Volume
- 102
- Issue
- 9
- Pages
- 1690-1703
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC509117
- OpenAlex
- W2123957814
- Cited by
- 375
- References
- 85
- Citations by year
- 2026: 12 · 2025: 12 · 2024: 12 · 2023: 12 · 2022: 10 · 2021: 14 · 2020: 7 · 2019: 12 · 2018: 14 · 2017: 14 · 2016: 8 · 2015: 6 · 2014: 13 · 2013: 12 · 2012: 10
- FWCI
- 10.88
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- Locations
- Journal of Clinical Investigation (publishedVersion, other-oa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Funders
- National Organization for Rare Disorders
- Deutsche Forschungsgemeinschaft
- National Institutes of Health (HL20948, RR00069)
- Directorate for Biological Sciences
- Medical Research Council
- National Heart, Lung, and Blood Institute (HL-20948, P01HL020948)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01 DK-38446, R01DK038446)
- National Center for Research Resources (RROOO69, M01RR000069)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Surgery › Pediatric Hepatobiliary Diseases and Treatments
- Keywords
- neonatal cholestasis, liver cirrhosis, 27-hydroxycholesterol, stop codon mutation, cholestatic liver disease
- MeSH terms
- Cytochrome P450 Family 7, Amino Acid Sequence, Animals, Base Sequence, Bile Acids and Salts, Cell Line, Transformed, Cytochrome P-450 Enzyme System, Cricetinae, Humans, Infant, Liver, Liver Diseases, Male, Metabolism, Inborn Errors, Microsomes, Liver, Molecular Sequence Data, Mutation, Steroid Hydroxylases, Sterols, Liver Transplantation, CHO Cells, DNA, Complementary, Cholic Acid
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