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Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.

Discovery medicine - 1 Aug 2023

Yu Xinyou, Liu Fang, Wei Bo, Li Meijuan, Lu Ruiping, Pan Lihua

Abstract excerpt

BACKGROUND: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder affecting phenylalanine (Phe) metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene. It has a complex phenotype with many variants and genotypes in various populations. This study sets out to analyze the screening results of children with phenylketonuria (PKU) in Yinchuan City and characterize the...

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PMID: 37553307
DOI: 10.24976/Discov.Med.202335177.54

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