高苯丙氨酸血症患儿二氢喋呤还原酶的测定

Estimation of Dihydropteridine Reductase in Hyperphenylalaninemia Children

在我国首次用干血滤纸片测定了高苯丙氨酸血症患儿及正常儿二氢喋呤还原酶（ＤＨＰＲ）活性。正常儿活性为４．９３±１．３８ｎｍｏｌ／ｍｉｎ干个血滤纸片（ｍｉｎｐｅｒｄｉｓｃ），患儿为５．０３±１．２０ｎｍｏｌ／ｍｉｎｐｅｒｄｉｓｃ。ＤＨＰＲ稳定性检测的结果表明，在４℃下保在标本一周后，其活性减低４％；１０周后减低５０％；室温下，一周后活性为原来的９２％，６周后为原来的５０％。本研究在３６名高苯丙氨酸血症中未发现ＤＨＰＲ缺乏症，提示在我国该症的发生率占高苯丙氨酸血症的２．７％以下。

ihydropteridine reductase(DHPR)activity was measured in dried blood spots in 36 children withhyperphenylalaninemia and 30 normal subjects,and was 4.93±1.38 nmol/min per disc in controls and5.03±1.20 nmol/min per disc in hyperphenylalaninemic patients. On stability study ,DHPR activity waslost 8%of the original value after 1 week storage at room temperature and satisfactorily high for the as-say. DHPR deficiency in hyperphenylalaninemic patients has not been detected,suggesting that the fre-quency of DHPR deficiency is below 3%in hyperphenylalaninemic children in China. Our report repre-sents the first study on the DHPR estimation in China.