Summary
The second step in the pathway for synthesis of bile acids from cholesterol is catalysed by the enzyme 3β-hydroxy-Δ5-C27-steroid dehydrogenase. Deficiency of this enzyme has been reported to produce cholestatic liver disease with progressive cirrhosis. Treatment with chenodeoxycholic acid led to clinical and biochemical improvement in one patient. We report a further child with this disorder who presented with prolonged neonatal jaundice followed by symptoms of malabsorption of fat-soluble vitamins. Bile acid replacement therapy resulted in clinical and biochemical improvement; it was also possible to demonstrate improvement in the histological appearance of the liver biopsy 4 months after commencing treatment.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Björkhem, I. Mechanisms of bile acid synthesis in mammalian liver. In Danielsson, H. and Sjövall, J. (eds.)Sterols and Bile Acids, Elsevier, Amsterdam, 1985, pp. 231–278
Buchmann, M. S., Kvittingen, E. A., Nazer, H., Gunasekaran, T., Clayton, P. T., Sjövall, J. and Björkhem, I. Lack of 3β-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase in fibroblasts from children with urinary excretion of 3β-hydroxy-Δ5 bile acids — a new inborn error of metabolism.J. Clin. Invest. 256 (1990) 2034–2037
Clayton, P. T. and Muller, D. P. R. A simplified gas-liquid chromatographic method for the estimation of non-sulphated plasma bile acids.Clin. Chim. Acta 105 (1980) 401–405
Clayton, P. T., Leonard, J. V., Lawson, A. M., Setchell, K. D. R., Andersson, S., Egestad, B. and Sjövall, J. Familial giant cell hepatitis with synthesis of 3β,7α-dihydroxy- and 3β,7α,12α-trihydroxy-5-cholenoic acids.J. Clin. Invest. 79 (1987) 1031–1038
Clayton, P. T., Patel, E., Lawson, A. M., Carruthers, R. A. and Collins, J. Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.J. Clin. Invest. 85 (1990) 1267–1273
Ichimiya, H., Nazer, H., Gunasekaran, T., Clayton, P. and Sjövall, J. Treatment of chronic liver disease caused by 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency with chenodeoxycholic acid.Arch. Dis. Child. 65 (1990) 1121–1124
Ichimiya, H., Egestad, B., Nazer, H., Baginski, E. S., Clayton, P. T. and Sjövall, J. Bile acids and bile alcohols in a child with hepatic 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment.J. Lipid. Res. 32 (1991) 829–841
Setchell, K. D. R. Disorders of bile acid synthesis. In Walker, W. A., Durie, P. R., Hamilton, J. R.et al. (eds.)Pediatric Gastrointestinal Disease, Decker, Philadelphia and Toronto, 1991, pp. 992–1013
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Horslen, S.P., Lawson, A.M., Malone, M. et al. 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology. J Inherit Metab Dis 15, 38–46 (1992). https://doi.org/10.1007/BF01800342
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800342