Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan
Background: Information regarding the prevalence of PKU in the Middle East
in comparison to other world regions is scarce, which might be explained by
difficulties in the implementation of national newborn screening programs.
Objective: This study seeks for the first time to genotype and biochemically
characterize patients diagnosed with hyperphenylalaninemia (HPA) at the
Pediatric Metabolic Genetics Clinic at the King Hussein Medical Center,
Amman, Jordan.
Methods: A total of 33 patients with HPA and 55 family members were investigated