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

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.

• Authors: Hiromi Nyuzuki, Taro Yamazaki, Megumi Saito, Akira Ohtake
• Journal: Molecular genetics and metabolism reports (Mol Genet Metab Rep) Vol. 21 Pg. 100526 (Dec 2019) ISSN: 2214-4269 [Print] United States
• PMID: 31720228 (Publication Type: Case Reports)
• Copyright: © 2019 The Authors.