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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。
In China for the first time with dry blood filter paper measured in children with hyperphenylalaninemia and normal children dihydrogenopterin reductase (DHPR) activity. Normal activity was 4.93 ± 1.38 nmol / min dry blood filter paper (minperdisc) in children with 5.03 ± 1.20nmol / minperdisc. The result of DHPR stability test showed that the activity decreased 4% at 4 ° C for one week and decreased 50% after 10 weeks; the activity after one week was 92% at room temperature and 50% after 6 weeks %. In this study, 36 cases of hyperphenylalaninemia found no DHPR deficiency, suggesting that the incidence of this disease in our country accounted for high phenylalaninemia less than 2.7%.