Ricerc@Sapienza

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

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range 1:4,500 [Italy]-1:125,000 [Japan]). Comparing genotypes and metabolic phenotypes from 16,092 affected subjects revealed differences in disease severity in 51 countries from 17 world regions, with the global phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia.