Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.
The clinical features of 16 patients suffering from cerebro-hepato-renal syndrome are presented. Five of these children lived beyond 2 years. Four of them are still alive. The increase of pipecolic acid in serum and cerebrospinal fluid (CSF), the abnormality of the bile acids and the increased excretion of p-OH-phenyl lactate were a consistent finding. The concentration of pipecolic acid in urine was not always distinctly elevated. A loading test with DL-pipecolic acid was always abnormal.
D001647:Bile Acids and Salts / Q000378:metabolism*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010875:Pipecolic Acids / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism*; D013577:Syndrome
D001647:Bile Acids and Salts; D010875:Pipecolic Acids; C031345:pipecolic acid