Neonatal cholestatic syndromes associated with alterations in bile acid synthesis.
In summary, the conditions discussed above are examples of diseases that result in deficient bile acid synthesis and production of abnormal bile acids. Although the relationship between the production of these abnormal bile acids and the pathogenesis of these diseases remains unknown, they continue to provide us with a better understanding of normal pathways of bile acid production. Clearly, more studies are needed before these interesting metabolic defects and normal infantile bile acid metabolism itself are well understood.
D000015:Abnormalities, Multiple / Q000235:genetics; D001647:Bile Acids and Salts / Q000096:biosynthesis*; D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities; D001927:Brain Diseases / Q000378:metabolism; D002777:Cholestanols / Q000097:blood; D002779:Cholestasis / Q000209:etiology; D005808:Genes, Recessive; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology* / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism; D007690:Polycystic Kidney Diseases / Q000235:genetics; D013577:Syndrome; D014973:Xanthomatosis / Q000378:metabolism
D001647:Bile Acids and Salts; D002777:Cholestanols; C009561:3,7,12-trihydroxycoprostane