Indicators of blood biochemical analysis in PKU patients being on amino acid mixtures substitute nutrition

Abstract

Topicality. Phenylketonuria is a congenital pathology of amino acid metabolism, which is a rare (orphan) disease. Depending on the regions of the world and the ethnic origin of the inhabitants, its prevalence can vary from 1/2600 to 1/200000. Phenylketonuria is caused by a deficiency of liver enzyme phenylalanine hydroxylase, which catalyzes the hydroxylation of phenylalanine, resulting in the formation of tyrosine. Enzyme deficiency leads to hyperphenylalaninemia, and in the absence of adequate therapeutic measures will lead to profound and irreversible disability of the patient.Aim. To conduct a comparative analysis of amino acid mixtures “Nutri-2”, “Nutri-3”, “PAM-2” and “PAM-3”, as well as to determine the biochemical parameters of the blood of four groups of patients on these diets according to their age needs.Materials and methods. On the basis of Kharkiv interregional specialized medical-genetic center of rare (orphan) diseases, treatment of phenylketonuria with the use of amino acid mixtures was introduced and further biochemical analysis of patients’ blood was performed. The results of biochemical parameters of blood of four groups of heterosexual and different-aged patients on different amino acid mixtures were taken for the study. The study involved 16 patients of different sexes aged 4 to 29 years.Results and discussion. The determined values of most biochemical markers in patients with PKU were within the reference values. In some patients taking PAM-2, minor changes were observed, which were reflected in increased urea content and activity of aspartate aminotransferase, lactate dehydrogenase and alkaline phosphatase outside the upper limit of normal.Conclusions. New therapeutic foods have more balanced nutritional composition, developed according to modern dietary recommendations, which is confirmed by stable biochemical parameters of the blood of patients with phenylketonuria.