NEONATAL CHOLESTASIS: IDENTIFICATION OF A METABOLIC ERROR IN BILE ACID SYNTHESIS
نویسندگان
چکیده
منابع مشابه
Bile acid sulfates. I. Synthesis of lithocholic acid sulfates and their identification in human bile.
Sulfate esters of lithocholic, glycolithocholic, and taurolithocholic acids were synthesized using sulfur trioxide in pyridine; they were purified by crystallization from methanol or ethanol as the diammonium salts, and their chemical compositions, infared spectra, and chromatographic behavior were determined. Strong alkaline hydrolysis of these sulfates, as commonly performed during quantitati...
متن کاملIdentification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
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 bombardme...
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BACKGROUND AND AIM Bile acid (BA) synthesis in the liver is regulated by Fibroblast Growth Factor 19 (FGF19) secreted from the ileum as an enterohepatic feedback mechanism. Although FGF19 mRNA is absent in normal liver, FGF19 gene expression was reported to increase in response to both extrahepatic and intrahepatic cholestasis. The impact of upregulated FGF19 expression on BA synthesis is uncle...
متن کاملBile acid assays as an index of cholestasis.
Four bile acid profiles, bilirubin, alkaline phosphatase, alanine aminotransferase, glutamate dehydrogenase, and isocitrate dehydrogenase were measured in rats in which normal bile flow had been disturbed either by administration of alpha-naphthylisothiocyanate or by surgical ligation of the bile duct. The most sensitive index to the early onset of cholestasis was an increase in total cholate. ...
متن کاملMolecular regulation of sinusoidal liver bile acid transporters during cholestasis.
Impairment of the hepatic transport of bile acids and other organic anions will result in the clinically important syndrome of cholestasis. Cloning of a number of specific hepatic organic anion transporters has enabled studies of their molecular regulation during cholestasis. The best characterized transport system is a 50-51 kDa sodium-dependent taurocholate cotransporting polypeptide (ntcp), ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1984
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198404001-00643