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

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

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

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

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

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

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

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

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

Age Distribution

Sex Distribution

Consanguinity among PKU

Family History among PKU

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

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

Mental Retardation among PKU

Age at the time of Diagnosis of PKU years

The phe (mg/dl) Vs IQ among PKU

GPX (U/L) Vs IQ among PKU

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

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)

Thank You Ramadan Kareeeem Amr S. Moustafa