title: Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.
abstract: Studies of eight patients with this syndrome confirm the characteristic pattern of abnormalities and the autosomal recessive mode of inheritance. The incidence is estimated to be approximately 1 in 100,000 live births. The liver lesion proved to be variable, with features of progressive parenchymal damage rather than a developmental defect of small bile ducts as previously suggested. Elevated levels of pipecolic acid were found in blood and urine and may be related to the basic defect.
mesh_terms: D000138:Acidosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D001315:Australia; D001847:Bone Diseases / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D001927:Brain Diseases / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007501:Iron / Q000097:blood / Q000378:metabolism; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D010375:Pedigree; D010875:Pipecolic Acids / Q000097:blood / Q000652:urine; D013577:Syndrome
chemical_list: D010875:Pipecolic Acids; D007501:Iron