Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
free free
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Mechanisms of disease: Inborn errors of bile acid synthesis Sundaram SS; Bove KE; Lovell MA; Sokol RJNat Clin Pract Gastroenterol Hepatol 2008[Aug]; 5 (8): 456-68Inborn 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 7alpha-hydroxylase deficiency, Delta(4)-3-oxosteroid-5beta-reductase deficiency, 3beta-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 gamma-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.|Bile Acids and Salts/*biosynthesis/blood/genetics[MESH]|Humans[MESH]|Liver Diseases/*genetics/*pathology[MESH]|Metabolism, Inborn Errors/*diagnosis/enzymology/*genetics[MESH]|Pruritus[MESH]|gamma-Glutamyltransferase/blood[MESH] |