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Pathway Description
Congenital Bile Acid Synthesis Defect Type II
Homo sapiens
Disease Pathway
Created: 2022-11-23
Last Updated: 2023-10-25
Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid 4-dehydrogenase catalyzes the bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one. Chenodeoxycholic acid and cholic acid are decreased in plasma and urine. Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.
References
Congenital Bile Acid Synthesis Defect Type II References
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Pubmed: 12970144
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Pubmed: 16141072
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Pubmed: 9642112
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Pubmed: 8547180
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