Article

Prevalence of Phenylketonuria in neonates of Mashhad, Iran: A cross-sectional study

2023-05-22

Abstract excerpt

<h4>Introduction: </h4> Phenylketonuria (PKU) is a rare genetic disorder, caused by impaired phenylalanine hydroxylase (PAH) gene activity, resulting in high levels of phenylalanine in the body fluids. Such condition increases the risk of cognitive issues and requires limited diet plans with medications such as Sapropterin dihydrochloride for treatment. PKU affects approximately 6.002 individuals per 100,000 neona...

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Literature Corpus work: 5a9e1b55-134c-515a-a016-a5b7b5db18bb
DOI: 10.21203/rs.3.rs-2824438/v1

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