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

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.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research