[Liver pathologies due to peroxisome disorders].
Peroxisomes or microbodies are peculiar subcellular organelles with an important role in the metabolism of a variety of different organic compounds. Particularly they are an important site of bile acids synthesis. Some hepatic diseases, mainly cholestatic, can to be reconnected at disorders of bile acids synthesis by these organelles. From the biochemical point some diseases present alterations of the cholesterol side chain (Zellweger syndrome, pseudo-Zellweger syndrome, infantile Refsum's disease, neonatal adrenoleukodystrophy), other diseases present errors involving the steroid nucleus (familial giant cell hepatitis). Zellweger disease or cerebro-hepato-renal syndrome is characterized clinically by skeletal changes, muscle hypotonia, renal cysts, psychosomatic retardation and persistent cholestasis and from the ultrastructural standpoint by the virtual absence of liver cell peroxisomes. Pseudo-Zellweger disease shows many of the clinical features of Zellweger disease but differs from this condition on account of the presence of abundant peroxisomes in the liver cells. Infantile Refsum's disease and neonatal adrenoleukodystrophy show typical clinical disorders and liver damage leading to cirrhosis. "Familial giant cell hepatitis" is characterized by jaundice from the first days of life, hepatosplenomegaly, cholestasis, lack of physical malformations. The disorder is due to defective biosynthesis of the bile acids with formation of allo-bile acids.
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Istituto di Medicina Interna, Università, Torino.
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D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D001647:Bile Acids and Salts / Q000096:biosynthesis; D006505:Hepatitis / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases / Q000145:classification / Q000209:etiology* / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D008830:Microbodies / Q000378:metabolism*; D015211:Zellweger Syndrome / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism
D001647:Bile Acids and Salts
Patologie epatiche da disordini dei perossisomi.