Aghayeva, S.A.S.A.AghayevaHuseynova, L.S.L.S.HuseynovaKichibekov, B.R.B.R.KichibekovAliyeva, K.A.K.A.AliyevaKhalilov, R.I.R.I.Khalilov2026-05-012026-05-01201810.19221/2018210https://rims.khazar.org/handle/123456789/650The family with identified inherited metabolic disease of phenylketonuria lives in Masally administrative area. Masally area itself is located in South-East of Azerbaijan Republic on the slopes of Talysh mountains in subtropical zone. Members of proband’s family possess deficiency of glucose-6- phosphatedehydrogenase. Phenylketonuria gene has an identified R261G (G-A) mutation. The study of erythrocyte enzyme preparation for family members have shown low electophoretic mobility for G6PD which was unknown in the world studies. Based on the Michaelis-Menten constant (Km) applied to G6P, substrate values have manifested high biochemical polymorphism.enphenylketonuriapolymerase chain reactionglucose-6-phospatedehydrogenase enzymebiochemical polymorphismenzyme preparationabnormal variantmutationtext::journal::journal article