DEPENDENCE OF THE LEVEL OF PHENYLALANINE IN BLOOD SERUM IN PATIENTS WITH SEVERE PHENYLKETONURIA
DOI:
https://doi.org/10.31618/nas.2413-5291.2020.2.61.318Keywords:
phenylketonuria, phenylalanine, correlation, intelligenceAbstract
Certainly hereditary metabolic diseases are the most important areas in the system of neonatological, pediatric and therapeutic and prophylactic care. Early diagnosis and identification of risk groups (recessive carriers) is an integral part in the prevention of this pathology. The criterion for the diagnosis of phenylketonuria is the level of phenylalanine in the blood serum (an increase in its level). Determination of enzyme activity is carried out by liver biopsy, but this test is invasive, accordingly, it is practically not performed. In healthy infants, the level of phenylalanine in the blood serum exceeds 34-101 μmol / L. With a significant decrease in the activity of the enzyme phenylalanine-4-hydroxylase, the level of phenylalanine increases to 900-1200 μmol / L, with residual enzyme activity, fluctuations from 120 to 900 μmol / L are possible.
References
Blau N. Genetics of Phenylketonuria: Then and Now. Hum Mutat 2016; 37: (6): 508-515. DOI: 10.1002/humu.22980
Guldberg P, Rey F., Zschocke J. et al. European multicenter study of phenylalanine hydroxylase deficiency classification of 105 mutations and f general system for genotype-based prediction of metabolic phenotype // Am J Hum Genet. 1998. 63 (4). P 12521253.
Ney D., Gleason S., van Calcar S. et al. Nutritional management of PQU with glycomacropeptide from cheese whey // J Iherit Metab Dis. 2009. № 32. P. 32-39.
Van Rijn M., Jansma J., Brinksma A. et al. A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake // J Am Diet Assoc. 2008. 108 (10). P. 1704-1707.
Фенилкетонурия и нарушения обмена тетрагидробиоптерина. Клинические рекомендации. М 2016.
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