[Zellweger's syndrome (cerebro-hepato-renal syndrome)--its clinical picture, morphology and biochemical diagnosis].
The cerebro-hepato-renal (Zellweger) syndrome is characterised by dysmorphic features, severe muscular hypotonia, hepatic dysfunction and early death in infancy. Recently it has been shown that the disease is an inborn error of metabolism with an unusual variety of metabolic disturbances affecting pipecolic acid, bile acids, plasmalogens and very long chain fatty acids. Ultrastructural and biochemical findings confirming the diagnosis are illustrated. The syndrome is inherited as an autosomal recessive trait, prenatal diagnosis has become possible.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D001647:Bile Acids and Salts / Q000378:metabolism; D003550:Cystic Fibrosis / Q000473:pathology; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D009123:Muscle Hypotonia / Q000473:pathology; D010375:Pedigree; D010875:Pipecolic Acids / Q000378:metabolism; D010955:Plasmalogens / Q000097:blood; D013577:Syndrome
D001647:Bile Acids and Salts; D005227:Fatty Acids; D010875:Pipecolic Acids; D010955:Plasmalogens; C031345:pipecolic acid
Zellweger Syndrom (Zerebro-hepato-renales Syndrom)--Klinik, Morphologie und biochemische Diagnostik.