新生儿苯丙酮尿症与四氢生物喋呤缺乏症筛查与治疗

The filtration and therapy of Phenylketouria and Tetrahydrobiopterin

目的总结回顾1997～2004年我省新生儿苯丙酮尿症筛查与治疗情况。方法细菌抑制法和化学荧光测定法,应用高效液相层析仪对高苯丙氨酸患儿做尿喋呤分析。结果共筛查苯丙酮尿症患儿11例,其中四氢生物喋呤缺乏症4例,发病率占高苯丙氨酸血症的36.4%(4/11)。结论加大新生儿筛查力度,动员全社会关心和支持这项工作,让所有孩子一出生就接受苯丙酮尿症的筛查,这对提高我国出生人口素质有极其重要的意义。

Objective To analysis and retrospect the treatment and screening of phenylketouria of neonates between 1997～2004 in Jiang Xi province. Methods Bacteria inhibition and fluorescent detection, to analysis the uricpterin of the patients with thphenylketonuria by high pressure liquid chromatography with fluorescent detection .（HPLC-FLD）. Results A total of 11 neonates with phenylketouria were confirmed ,including 4 neonates with tetrahydrobiopterin deficiency （BH4D）, accounting for 36,4%（4/11） of phenylketouria. Conclusion It is invaluable for improving the quality of people for us to strength the screening of neonates, and do our best to let all of neonates be screened for phenylketouria.