First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

Hiromi Nyuzuki; Taro Yamazaki; Megumi Saito; Akira Ohtake

doi:10.1016/j.ymgmr.2019.100526

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

Mol Genet Metab Rep. 2019 Nov 1:21:100526. doi: 10.1016/j.ymgmr.2019.100526. eCollection 2019 Dec.

Authors

Hiromi Nyuzuki^{1

2

3}, Taro Yamazaki³, Megumi Saito⁴, Akira Ohtake^{3

4}

Affiliations

¹ Department of Pediatrics, Niigata University, Niigata, Japan.
² Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
³ Department of Pediatrics, Saitama Medical University, Saitama, Japan.
⁴ Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.

Abstract

Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD. The patient was administered SD at 10-20 mg/kg/day, which increased phenylalanine tolerance during the pregnancy and lactation. No adverse events occurred, and she delivered a healthy neonate. Normal growth and development of the child confirms the efficacy and safety of SD.

Keywords: Growth and development; Maternal phenylketonuria; Sapropterin dihydrochloride.

Publication types

Case Reports