Results of the comprehensive study in newborn babies with congenital phenylketonuria

The timely detection of newborns with congenital phenylketonuria, in which the metabolism amino acid phenylalanine is disturbed due to lack enzyme hydroxylase, remains an urgent issue. Increase level and its toxic products cell leads severe brain damage, manifests itself form mental retardation. Prompt diagnosis phenylketonuria can prevent dementia serious disorders. aim work a comprehensive study for enzymatic immunoassay, real-time PCR, tandem mass spectrometry were applied. Out 5,293 screened at genetic laboratory LPP “Center Molecular Medicine” (Almaty, Kazakhstan) 2019, two diagnosed phenylketonuria. molecular both them indicated presence R408W mutation heterozygous state hydroxylase PAH gene. Upon application appropriate dietary therapy, concentrations blood reached 62.9 µM/L 1st 173 2nd newborn, corresponds reference value. For effective treatment confirmed based on studies (detection gene) newborns, it proposed conduct additional biochemical possible metabolic