Epidemiology of Phenylketonuria Disease in Jordan: Medical and Nutritional Challenges.

ABSTRACT: Phenylketonuria (PKU) is the most frequent inborn error in amino acid metabolism caused by a deficiency of the phenylalanine hydroxylase enzyme (PAH). If PKU is left untreated, high concentrations of phenylalanine (Phe) accumulate in the blood, leading to severe brain dysfunction, neurodevelopmental, behavioral and psychological problems. Data concerning the epidemiology of PKU in Jordan are limited. The main objectives of our study were to determine the prevalence of PKU in Jordan, analyze the PKU phenotypes, and identify major challenges in providing dietary management to PKU patients. Data were collected utilizing the medical records of PKU patients attending the PKU clinic at the Ministry of Health in Amman, Jordan, between 2008 and 2021. The total number of patients diagnosed with PKU

SUBMITTER: Dababneh S 

PROVIDER: S-EPMC8947754 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature