Guide for diagnosis and treatment of hyperphenylalaninemia
| Autor: | Toshihiro Ohura, Masaki Takayanagi, Fumio Endo, Masafumi Matuo, Yoichi Matsubara, Torayuki Okuyama, Yoshiyuki Okano, Kimitoshi Nakamura, Haruo Shintaku, Hiroyuki Ida, Makoto Yoshino, Tetsuya Ito, Shigeo Kure, Misao Owada |
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| Rok vydání: | 2020 |
| Předmět: |
inorganic chemicals
Pediatrics medicine.medical_specialty Phenylketonuria Maternal Phenylalanine hydroxylase Phenylalanine 030204 cardiovascular system & hematology Blood phenylalanine 03 medical and health sciences 0302 clinical medicine Hyperphenylalaninemia Japan Pregnancy 030225 pediatrics Phenylketonurias medicine Humans heterocyclic compounds Maternal phenylketonuria Tetrahydrobiopterin deficiency biology business.industry Phenylalanine Hydroxylase Tetrahydrobiopterin medicine.disease Biopterin Phenotype Pediatrics Perinatology and Child Health cardiovascular system biology.protein Female business circulatory and respiratory physiology medicine.drug |
| Zdroj: | Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 63(1) |
| ISSN: | 1442-200X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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