Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

ABSTRACT:

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 for pterins (neopterin and biopterin) and dihydropteridine reductase (DHPR) activity in dried blood spots. Patients with HPA were genotyped for phenylketonuria (PKU) and the genes involved in tetrahydrobiopterin (BH₄) metabolis

SUBMITTER: Carducci C 

PROVIDER: S-EPMC7463056 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature