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http://hdl.handle.net/20.500.12323/5976| Title: | Inherited Metabolic Disease Phenylketonuria and Deficiency of G6pd Enzyme In A Family Study |
| Authors: | Aghayeva, S.A. Huseynova, L.S. Kichibekov, B.R. Aliyeva, K.A. Khalilov, R.I. |
| Keywords: | phenylketonuria polymerase chain reaction glucose-6-phospatedehydrogenase enzyme biochemical polymorphism enzyme preparation abnormal variant mutation |
| Issue Date: | 2018 |
| Citation: | Deutscher Wissenschaftsherold. German Science Herald |
| Series/Report no.: | ;№ 2 |
| Abstract: | The 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. |
| URI: | http://hdl.handle.net/20.500.12323/5976 |
| Appears in Collections: | Publication |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Inherited Metabolic Disease Phenylketonuria and Deficiency of G6pd Enzyme In A Family Study.pdf | 568.85 kB | Adobe PDF | View/Open |
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