Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

摘要: Background Information regarding the prevalence of PKU in Middle East comparison to other world regions is scarce, which might be explained by difficulties implementation national newborn screening programs. Objective This study seeks for first time genotype and biochemically characterize patients diagnosed with hyperphenylalaninemia (HPA) at Pediatric Metabolic Genetics Clinic King Hussein Medical Center, Amman, Jordan. Methods A total 33 HPA 55 family members were investigated pterins (neopterin biopterin) dihydropteridine reductase (DHPR) activity dried blood spots. Patients genotyped phenylketonuria (PKU) genes involved tetrahydrobiopterin (BH$_{4}$) metabolism. Results In 20 due phenylalanine hydroxylase (PAH) deficiency, 2 GTP cyclohydrolase I (GTPCH) 6 DHPR 3 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. Diagnosis was not possible patients. This documents a high percentage BH$_{4}$ deficiencies within With one exception, all homozygous particular gene variants. Conclusions This approach enables differentiation between and, thus, allows critical selection specific treatment strategies.