TY - JOUR
T1 - Guide for diagnosis and treatment of hyperphenylalaninemia
AU - Shintaku, Haruo
AU - Ohura, Toshihiro
AU - Takayanagi, Masaki
AU - Kure, Shigeo
AU - Owada, Misao
AU - Matsubara, Yoichi
AU - Yoshino, Makoto
AU - Okano, Yoshiyuki
AU - Ito, Tetsuya
AU - Okuyama, Torayuki
AU - Nakamura, Kimitoshi
AU - Matuo, Masafumi
AU - Endo, Fumio
AU - Ida, Hiroyuki
N1 - Publisher Copyright:
© 2021 Japan Pediatric Society
PY - 2021/1
Y1 - 2021/1
N2 - 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.
AB - 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.
KW - hyperphenylalaninemia
KW - maternal phenylketonuria
KW - phenylketonuria
KW - tetrahydrobiopterin
KW - tetrahydrobiopterin-responsive hyperphenylalaninemia
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U2 - 10.1111/ped.14399
DO - 10.1111/ped.14399
M3 - Article
C2 - 33423362
AN - SCOPUS:85099088039
SN - 1328-8067
VL - 63
SP - 8
EP - 12
JO - Pediatrics International
JF - Pediatrics International
IS - 1
ER -