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

• Main Authors: Shino Odagiri (Author), Daijiro Kabata (Author), Shogo Tomita (Author), Satoshi Kudo (Author), Tomoko Sakaguchi (Author), Noriko Nakano (Author), Kouji Yamamoto (Author), Haruo Shintaku (Author), Takashi Hamazaki (Author)
• Format: Book
• Published: MDPI AG, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...