3. Evaluation of Plasma Selenium Level, Glutathione Peroxidase Activity and Thyroid Functions in Children with Phenylketonuria Evaluation of Plasma Selenium Level, Glutathione Peroxidase Activity and Thyroid Functions in Children with Phenylketonuria *Rabah M. Shawky, *Eman A. Zaki, **Amr S. Moustafa Pediatric* and Biochemistry** Departments, Ain Shams Medical School, Cairo, Egypt *Rabah M. Shawky, *Eman A. Zaki, **Amr S. Moustafa Pediatric* and Biochemistry** Departments, Ain Shams Medical School, Cairo, Egypt

4. Phenylketonuria  Autosomal Recessive  Unless Treated, Irreversible MR  Newborn Screening  Autosomal Recessive  Unless Treated, Irreversible MR  Newborn Screening

5. Reactive Oxygen Species Singlet Oxygen ( 1 O 2 ) Superoxide (O 2 · ) Hydroxyl (OH · ) Peroxyl (ROO · ) Alkoxyl (RO · ) Hydrogen Peroxide (H 2 O 2 )  Free Radical  Non Free Radical

6. Natural Antioxidants Enzymes Superoxide Dismutase Catalase Glutathione Peroxidase Vitamins and Trace-elements Water-Soluble: Vitamin C Fat-Soluble: Vitamin A and E Selenium

7. Oxidative Stress The Imbalance between  ROS  Natural Antioxidants The Imbalance between  ROS  Natural Antioxidants

8. Glutathione Peroxidase (GPX) GPX Gene on Chromosome 3 GPX is a Selenoprotein GSSG GSHH2O2H2O2 H2OH2O GPX NADPH+H + NADP + PPP

9. Selenium (Se) Essential Micronutrient RDA and RNI Selenoproteins Functions Antioxidant Formation of Active T3 Immune SystemBlood Clotting GPX, Iodothyronine Deiodinase, …

10. Aim of the Work Evaluation of the Changes in Plasma Se Level, GPX Activity and Thyroid Function Tests in PKU Patients This Would Allow Better Follow-up and Careful Adjusting of Dietary Management Protocols for PKU Patients

11. Work Plan Measurement of Plasma Se Level by Atomic Absorption Measurement of Whole Blood GPX Activity by Spectrophotometry T3, T4, and TSH Levels by Electrochemiluminesnce Immunoassay phe Level by HPLC

12. Age Distribution

13. Sex Distribution

14. Consanguinity among PKU

15. Family History among PKU

16. GPX (U/L) of PKU Vs Controls * * Significant

17. Se (µg/dl) of PKU Vs Controls ** ** Highly Significant

18. Mental Retardation among PKU

19. Age at the time of Diagnosis of PKU years

20. The phe (mg/dl) Vs IQ among PKU

21. GPX (U/L) Vs IQ among PKU

22. Conclusions Decreased Se level among PKU may be due to dietary restriction PKU is a state of oxidative stress that may be associated with the depletion of natural antioxidants Instead, Se deficiency may be a part of the pathology of PKU

23. Follow-up of PKU with thyroid function tests is recommended with severe Se deficiency Dietary supplementation with Se is recommended for PKU to allow for The proper functions of selenoproteins Conclusions (Cont’d)

24. Thank You Ramadan Kareeeem Amr S. Moustafa