Phenylketonuria Pku : Food Controlled Genetic Disease

Phenylketonuria PKU is an autosomal recessive inborn disorder of the metabolism that occurs due to mutations in the gene that codifies enzyme called the phenylalanine hydroxylase PAH which is responsible for converting dietary phenylalanine Phe into tyrosine Tyr in the liver. This results in persistent elevated Phe blood and tissue concentrations, with potential toxic effects, particularly for the developmental brain. Although some new therapeutic approaches have been tested in order to improve the quality of life of PKU patients as neutral amino acids, tetrahydrobiopterin, Phe ammonia lyase or gene therapy , dietary restriction throughout an individual’s lifetime is a general consensus for the current standard of care and primary treatment for PKU. Nutritional guidelines and statements vary between countries, but low protein and Phe-restricted diet are common. However, PKU patients’ individual tolerances are determinant for the treatment. The content of dietary treatment was protein substitutes Phe-free AA mixtures and a wide range of low protein products like bread, biscuits, cereals, pasta, flour, the substitutes of milk, cheese and egg.. etc. and strictly controlled amounts of natural foods, essentially fruits, vegetables and other natural foods or food products with low protein content. Medicinal food are also included in the diet, however high tyr content, the lack of some diet substitutes make them unpreferred. The aim of this review was to discuss the some concerns about the dietary treatment of PKU