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The efficacy of the use of specialized amino acid mixture without phenylalanine for treatment of patients with phenylketonuria


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Abstract

There are presented data of own studies of children with phenylketonuria (PKU), associated with the disorder of metabolism of phenylalanine, as a result of mutational blockade of enzymes. Without proper treatment such disorder brings about in persistent chronic intoxication and CNS with pronounced mental deficience and neurological deficit. In the medical genetic counseling of Vladimir there were observed 79 patients with PKU who were divided into groups depending on the time both of diagnosis of PKU and the beginning of the diet therapy with amino acid mixture without phenylalanine of the series MDmil PKU. The diet therapy with the use of amino acid mixtures without phenylalanine was established to be effective at any stage of revealing PKU. Early detection of the disease, timely prescription of the diet therapy and the faithful adherence to diet therapy provides the normal neuro-psychological and physical development of children with PKU. Disorders of the diet therapy have adverse effects on the neuropsychological development ofpatients with PKU, and prove to be a risk factor for obesity. Own experience of the use of amino acid mixture MDmil PKU suggests these health products to be preferable for the taste of the children surveyed. During the time of their use in no patient there were noted dyspeptic and allergic reactions, which allowed to maintain an optimal level of phenylalanine in the blood and provide a good clinical effect of diet therapy.


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