Milstien S, Kaufman S, Summer G K
Pediatrics. 1980 Apr;65(4):806-10.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency results from the inability to maintain the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in its reduced or active form. Diagnosis of the disease is usually made by direct enzymatic assay on liver biopsies or in cultured skin fibroblasts. Evidence is presented that normal children and classic phenylketonuric children excrete mainly tetrahydrobiopterin in their urines, whereas children with dihydropteridine reductase deficiency excrete only oxidized forms of biopterin. Details of a rapid high performance liquid chromatographic assay for the measurement of the various forms of biopterin in urine are presented. This assay can be used to screen for suspected dihydropterine reductase mutants.
由于二氢蝶啶还原酶缺乏导致的高苯丙氨酸血症，是由于无法将芳香族氨基酸羟化酶辅因子四氢生物蝶呤维持在还原或活性形式。该疾病的诊断通常通过对肝活检组织或培养的皮肤成纤维细胞进行直接酶分析来进行。有证据表明，正常儿童和典型苯丙酮尿症儿童尿液中主要排泄四氢生物蝶呤，而二氢蝶啶还原酶缺乏的儿童仅排泄生物蝶呤的氧化形式。本文介绍了一种用于测量尿液中各种形式生物蝶呤的快速高效液相色谱分析法的详细信息。该分析方法可用于筛查疑似二氢蝶呤还原酶突变体。
