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November 1967

Phenylketonuria Metabolites in Cerebellum Culture Morphology

Author Affiliations

From the Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia.

Arch Neurol. 1967;17(5):524-529. doi:10.1001/archneur.1967.00470290078010

IT has been demonstrated that a low phenylalanine diet will permit normal development of the child born with phenylketonuria (PKU). If the child is loaded orally with phenylalanine, transient behavioral disturbances occur coincidental with a transient elevation of serum phenylalanine and elevation of the various metabolites which have been identified in these patients. However, attempts by many investigators to correlate excretions of specific metabolites with the degree of retardation in untreated patients has not demonstrated which chemical, or group of metabolites, is most responsible for the neurologic damage.2

Evidence has accumulated that, in at least some patients with PKU, histologic changes occur in the brain which are visible using conventional neuropathologic techniques. Alvord et al,3 in 1950, first described instances of deficient myelination in cerebrum and cerebellum of patients with PKU. Others have since confirmed this finding.4-6 Recently, Malamud6 described distinct structural alterations in

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