Abstract
Phenylketonuria is a hereditary disease induced more often by a defect in hepatic phenylalanine hydroxylase activity, enzyme-converting phenylalanine to tyrosine. This dysfunction leads to a blood phenylalanine accumulation, which induces mentally retard if no treatment. Only a preventive nutritional treatment, with low controled phenylalaline content, allows to avoid the mental after-effects. This paper details the nutritional intervention proposed for young patients with phenylketonuria. The different conversion systems and the available dietary products are presented. The dietary regimen and the clinical, dietetical, psychological and biological survey are described. Difficulties encountered and factors influencing the diet compliance are also approached.
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