四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

作者信息

Kure S, Hou D C, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K

机构信息

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.

出版信息

J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1.

DOI:10.1016/s0022-3476(99)70138-1

PMID:10484807

Abstract

Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.

摘要

4例高苯丙氨酸血症患者在负荷四氢生物蝶呤后血清苯丙氨酸浓度下降。尿蝶呤排泄或二氢蝶呤还原酶活性均无异常。然而，在苯丙氨酸羟化酶基因中检测到突变，提示可能存在一种新型的苯丙氨酸羟化酶缺乏亚型，其可能对补充辅因子治疗有反应。