通过测定尿中蝶呤对高苯丙氨酸血症的变异型进行诊断。

Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.

作者信息

Dhondt J L, Largilliere C, Ardouin P, Farriaux J P, Dautrevaux M

出版信息

Clin Chim Acta. 1981 Mar 5;110(2-3):205-14. doi: 10.1016/0009-8981(81)90349-1.

Abstract

Assessment of urinary pterins is proposed as a rapid method for recognition of the variants of hyperphenylalaninemia. This is achieved by means of oxidation of pterins by iodine in acidic and alkaline solutions and then by high performance liquid chromatography on a cation-exchange column with fluorimetric detection. In biopterin-synthetase deficiency, only neopterin accumulated; in dihydropteridine-reductase (DHPR) deficiency and in phenylketonuria, high levels of pterins are found, but BH4 levels, absent in the former and high in the latter, allow a differential diagnosis. Phenylalanine loads in the controls also lead to increased elimination of pterins, but with a pattern different from that found in phenylketonuria. This method can be used before dietary treatment and thus can be proposed for all newly detected hyperphenylalaninemic babies.

摘要

尿蝶呤评估被提议作为一种快速识别高苯丙氨酸血症变体的方法。这是通过在酸性和碱性溶液中用碘氧化蝶呤，然后在阳离子交换柱上进行高效液相色谱并采用荧光检测来实现的。在生物蝶呤合成酶缺乏症中，仅新蝶呤积累；在二氢蝶啶还原酶（DHPR）缺乏症和苯丙酮尿症中，发现蝶呤水平较高，但前者中四氢生物蝶呤（BH4）水平缺乏而后者中BH4水平较高，这有助于进行鉴别诊断。对照组中的苯丙氨酸负荷也会导致蝶呤排泄增加，但模式与苯丙酮尿症中发现的不同。该方法可在饮食治疗前使用，因此可推荐用于所有新检测出的高苯丙氨酸血症婴儿。