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Guide for diagnosis and treatment of hyperphenylalaninemia
Author(s) -
Shintaku Haruo,
Ohura Toshihiro,
Takayanagi Masaki,
Kure Shigeo,
Owada Misao,
Matsubara Yoichi,
Yoshino Makoto,
Okano Yoshiyuki,
Ito Tetsuya,
Okuyama Torayuki,
Nakamura Kimitoshi,
Matuo Masafumi,
Endo Fumio,
Ida Hiroyuki
Publication year - 2021
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.14399
Subject(s) - hyperphenylalaninemia , tetrahydrobiopterin , phenylalanine hydroxylase , medicine , phenylalanine , pharmacology , phenylketonurias , biochemistry , chemistry , amino acid , nitric oxide synthase , nitric oxide
Importance Sapropterin hydrochloride, a natural coenzyme (6R‐tetrahydrobiopterin) of phenylalanine hydroxylase, was first approved as a treatment for tetrahydrobiopterin deficiency in 1992 in Japan, and was then approved as a treatment for a tetrahydrobiopterin‐responsive hyperphenylalaninemia in 2007 and 2008, in the USA and Japan, respectively. Guidelines are required on the proper use of sapropterin hydrochloride for tetrahydrobiopterin‐responsive hyperphenylalaninemia. Observations It is recommended that tetrahydrobiopterin‐responsive hyperphenylalaninemia should be diagnosed in all cases of hyperphenylalaninemia, including phenylketonuria, by tetrahydrobiopterin administration tests rather than by phenotype or blood phenylalanine levels. Conclusions and Relevance 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.