Pipecolic acid levels in serum and urine from neonates and normal infants: comparison with values reported in Zellweger syndrome.

Pipecolic acid (PA) excretion from normal newborn, preterm and/or small-for-dates infants has been determined and correlated with gestational age, sex and age after birth. An effect of fetal sex was not detectable. Only small-for-dates infants with a gestational age of greater than 34-37 weeks had a lower urinary excretion of PA than the appropriate-for-dates infants with the same gestational age.

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.

Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid.

The metabolism of pipecolic acid ahs been studied in three patients suffering from the cerebro-hepato-renal syndrome of Zellweger. A marked pipecolic aciduria was observed in these patients and serum levels of pipecolic acid were also elevated. From in vivo studies evidence was obtained that a disturbance in the catabolic pathway of pipecolic acid was present in all patients.