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.