Cerebrospinal fluid cholesterols and phospholipids in phenylketonuria.

Abstract

Cerebrospinal fluid (CSF) cholesterols and phospholipids were fractionated and quantitated in 64 patients with phenylketonuria (PKU). In 56 patients the results were related to clinical neurological signs and to the intellectual deficiency. PKU patients had decreased mean concentrations of esterified cholesterol, total phospholipid, sphingomyelin, and choline phosphoglyceride, and increased concentration of ethanolamine phosphoglyceride. The cholesterol but not phospholipid concentrations were significantly correlated to CSF protein concentrations. Decreased cholesterol and phospholipid concentrations were predominantly seen in patients with abnormal motor signs, and the decrease was greatest in the most affected patients. There was no relation between reduced CSF lipid concentrations and the occurrence of epilepsy or the degree of mental deficiency. The reduction of CSF cholesterol and phospholipid concentrations is probably related to myelin abnormalities, and the different results observed in relation to the neurological abnormalities and to the mental deficiency point to a difference in the pathogenesis of these disorders.