Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndrome.

The bile acid pattern in bile and serum from two infants with the cerebro-hepato-renal syndrome of Zellweger was severely disturbed. An increased concentration particularly of trihydroxycoprostanic acid and also of dihydroxycoprostanic acid could be demonstrated. A generalized mitochondrial defect could explain these increased concentrations. This hypothesis is supported by the abnormal structure of the mitochondria in the liver biopsy of one of our patients. It is possible that the abnormal bile acids contribute to the liver damage of infants with Zellweger syndrome.