高苯丙氨酸血症诊治指南。
Guide for diagnosis and treatment of hyperphenylalaninemia.
机构信息
Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
Sendai City Hospital, Miyagi, Japan.
出版信息
Pediatr Int. 2021 Jan;63(1):8-12. doi: 10.1111/ped.14399. Epub 2021 Jan 10.
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.
重要性
盐酸沙丙蝶呤是苯丙氨酸羟化酶的天然辅酶（6R-四氢生物蝶呤），于 1992 年在日本首次被批准用于治疗四氢生物蝶呤缺乏症，随后于 2007 年和 2008 年分别在美国和日本被批准用于治疗四氢生物蝶呤反应性高苯丙氨酸血症。需要制定盐酸沙丙蝶呤治疗四氢生物蝶呤反应性高苯丙氨酸血症的使用指南。
观察结果
建议通过四氢生物蝶呤给药试验而不是表型或血苯丙氨酸水平，对所有高苯丙氨酸血症（包括苯丙酮尿症）病例进行四氢生物蝶呤反应性高苯丙氨酸血症诊断。
结论和相关性
如果诊断为四氢生物蝶呤反应性高苯丙氨酸血症，则所有年龄段均可使用盐酸沙丙蝶呤治疗。虽然有报道称盐酸沙丙蝶呤对预防母源性苯丙酮尿症有效且安全，但仍需进一步研究。
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