A Chemical Investigation of the Defects of Myelination in Phenylketonuria

This is the authors' abstract. We don't add key points for this paper.

The relationship between the metabolic abnormality and the mental deficiency characteristic of phenyl-ketonuria has been the subject of speculation and experiment since the condition was first discovered. An 'intoxication ' has been postulated (Woolf and Vulliamy, 1951) and it has been shown that the functioning of a number of different enzymes present in the brain is affected. However, at least in some cases, the actual morphology of the brain appears to be altered and the occurrence of these neural lesions must be fitted into the overall picture. The suggestion that the mental and neurological effects of phenylketonuria were due to intoxication by phenylalanine or its metabolites appears to have been confirmed by the success of a diet low in phenylalanine in preventing or ameliorating, in some cases, the mental deficiency and neurological