MATERNAL PHENYLKETONURIA - COMPOSITION OF CEREBRAL LIPIDS IN AN AFFECTED OFFSPRING

The chemical composition of cerebral lipids and the fatty acid pattern of the major white matter and myelin glycolipids were examined in a severely retarded heterozygote offspring of a phenylketonuric mother. The lipid abnormalitis seen were comparable with those previously found in patients with phenylketonuria. They included a slight reduction in cholesterol, cerebrosides, and sulfatides. As was observed in 3 phenylketonuric patients, the relative amounts of nonhydroxylated sulfatides were reduced. A loss in sulfatide cerebronic acid (24h:0), usually accompanied by an increase in alpha-hydroxy nervonic acid (24h:1), was seen in all 3 specimens analyzed in this patient and was also present in all 3 phenylketonuric brains previously studied by us. The presence of large amounts of esterified kerasin cerebrosides was documented. While they may represent an artifact, it is more likely that they were formed in vivo as a consequence of esterification of long-chain extra-myelin cerebrosides. The similarity of the biochemical abnormalities to those seen in the brain of the homozygous phenylketonuric patient provides evidence that exposure of the fetus to a deranged amino acid environment produces irreversible neurochemical alterations. © 1969 The C. V. Mosby Company.