Guide for diagnosis and treatment of hyperphenylalaninemia.
Haruo ShintakuToshihiro OhuraMasaki TakayanagiShigeo KureMisao OwadaYoichi MatsubaraMakoto YoshinoYoshiyuki OkanoTetsuya ItoTorayuki OkuyamaKimitoshi NakamuraMasafumi MatuoFumio EndoHiroyuki IdaPublished in: Pediatrics international : official journal of the Japan Pediatric Society (2021)
If tetrahydrobiopterin-responsive hyperphenylalaninemia is diagnosed, all ages can be treated with sapropterin hydrochloride. Although there are reports that sapropterin hydrochloride is effective and safe for the prevention of maternal phenylketonuria, further investigation is required.