title: Zellweger's cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis.
abstract: Two siblings with Zellweger's cerebro-hepato-renal syndrome are reported. The two children both had multiple anomalies associated with Zellweger's syndrome such as characteristic facial appearance, cerebral dysfunction, muscular hypotonia, liver abnormalities, failure to thrive, marasm and early death. One of the children, a girl, lacked several anomalies that were present in her brother. In one of the children bile acid analysis was performed by use of gas chromatography-mass spectrometry. 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acid (THCA) and varanic acid, both precursors of cholic acid, were found. The defect bile acid synthesis may be due both to liver mitochondrial abnormalities and to the absence of liver peroxisomes, conditions known to occur in Zellweger's syndrome.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001647:Bile Acids and Salts / Q000378:metabolism*; D002635:Chenodeoxycholic Acid / Q000378:metabolism; D002777:Cholestanols / Q000378:metabolism; D002793:Cholic Acids / Q000378:metabolism; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism; D008297:Male; D013577:Syndrome
chemical_list: D001647:Bile Acids and Salts; D002777:Cholestanols; D002793:Cholic Acids; D002635:Chenodeoxycholic Acid; C024759:3,7,12,24-tetrahydroxycholestanoic acid; C003681:3,7,12-trihydroxycoprostanic acid