Journal
NATURE CLINICAL PRACTICE GASTROENTEROLOGY & HEPATOLOGY
Volume 5, Issue 8, Pages 456-468Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncpgasthep1179
Keywords
bile acid; cholestasis; fat soluble vitamins; liver failure; ursodeoxycholic acid
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Funding
- NCRR NIH HHS [RR00069, M01 RR000069] Funding Source: Medline
- NIDDK NIH HHS [U01 DK062453, U54 DK078377, U54DK078377, U01DK062453] Funding Source: Medline
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Inborn errors of bile acid synthesis are rare genetic disorders that can present as neonatal cholestasis, neurologic disease or fat-soluble-vitamin deficiencies. There are nine known defects of bile acid synthesis, including oxysterol 7 alpha-hydroxylase deficiency, Delta(4)-3-oxosteroid-5 beta-reductase deficiency, 3 beta-hydroxy-Delta(5)-C-27-steroid dehydrogenase deficiency, cerebrotendinous xanthomatosis (also known as sterol 27-hydroxylase deficiency), alpha-methylacyl-CoA racemase deficiency, and Zellweger syndrome (also known as cerebrohepatorenal syndrome). These diseases are characterized by a failure to produce normal bile acids and an accumulation of unusual bile acids and bile acid intermediaries. Individuals with inborn errors of bile acid synthesis generally present with the hallmark features of normal or low serum bile acid concentrations, normal.-glutamyl transpeptidase concentrations and the absence of pruritus. Failure to diagnose any of these conditions can result in liver failure or progressive chronic liver disease. If recognized early, many patients can have a remarkable clinical response to oral bile acid therapy.
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