Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan

Phenylketonuria (PKU) and hyperphenylalaninemia (HPA), both identified in newborn screening, are attributable to variants in <i>PAH</i>. Reportedly, the p.R53H(c.158G>A) variant is common in patients with HPA in East Asia. Here, we aimed to define the association between p.R53H and HP...

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Bibliographic Details
Main Authors: Shino Odagiri, Daijiro Kabata, Shogo Tomita, Satoshi Kudo, Tomoko Sakaguchi, Noriko Nakano, Kouji Yamamoto, Haruo Shintaku, Takashi Hamazaki
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:International Journal of Neonatal Screening
Subjects:
phenylketonuria
hyperphenylalaninemia
phenylalanine hydroxylase
genetic analysis
neonatal screening
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2409-515X/7/1/17

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https://www.mdpi.com/2409-515X/7/1/17

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