Intracellular cholestatic syndromes of infancy.
The infant who presents with intracellular cholestasis represents a significant diagnostic challenge to the physician. The efficient and complete evaluation of such patients is of utmost importance. Rapid institution of appropriate therapy may be lifesaving in some cases. In others, a definitive diagnosis is essential for appropriate parental counseling.
D001424:Bacterial Infections / Q000150:complications; D001647:Bile Acids and Salts / Q000096:biosynthesis / Q000378:metabolism; D001707:Biopsy, Needle; D002780:Cholestasis, Intrahepatic / Q000209:etiology / Q000473:pathology / Q000628:therapy; D005632:Fructose / Q000378:metabolism; D005690:Galactose / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000150:complications; D006505:Hepatitis / Q000150:complications / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000209:etiology / Q000473:pathology; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008661:Metabolism, Inborn Errors / Q000150:complications; D011379:Prognosis; D013577:Syndrome; D014443:Tyrosine / Q000097:blood
D001647:Bile Acids and Salts; D005632:Fructose; D014443:Tyrosine; D005690:Galactose