First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.,Molecular Genetics and Metabolism Reports

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First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.
Molecular Genetics and Metabolism Reports ( IF 1.8 ) Pub Date : 2019-11-01 , DOI: 10.1016/j.ymgmr.2019.100526
Hiromi Nyuzuki _{1,

2,

3} , Taro Yamazaki ₃ , Megumi Saito ₄ , Akira Ohtake _{3,

4}

Affiliation

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.

中文翻译：

日本首例产妇苯丙酮尿症用盐酸沙丙蝶呤治疗，孩子生长发育正常。

对于计划怀孕的苯丙酮尿症 (PKU) 女性来说，盐酸沙丙蝶呤 (SD) 可能是一种新的治疗选择。我们报告了日本首例接受 SD 治疗的产妇 PKU 病例。患者接受 10-20 mg/kg/天的 SD 治疗，这增加了妊娠和哺乳期间的苯丙氨酸耐受性。没有发生任何不良事件，她产下了健康的新生儿。儿童的正常生长发育证实了SD的有效性和安全性。

更新日期：2019-11-01

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