Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province

Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbance of amino acid metabolism may impair cognitive de...

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Bibliographic Details
Main Authors: Baitao Zeng, Qing Lu, Shaohong Chen, Huizhen Guan, Xiaolan Xu, Yongyi Zou, Feng Wang, Shuhui Huang, Yanqiu Liu, Bicheng Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Genetics
Subjects:
phenylalanine hydroxylase deficiency
newborn screening
mutational spectrum
arbitrary values
Jiangxi province
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1049816/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1049816/full

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