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本文报告1例暂时性高苯丙氨酸血症患者,经10个月临床观察和对血中二氢喋呤还原酶(DHPR)及尿中喋呤谱进行分析。控制病婴食物中苯丙氨酸(phe)的含量,发现在8个月后,恢复自由饮食时血中phe浓度一直维持在2mg/dI以下。该病婴在3个月时血中DHPR活性正常,但尿中总生物喋呤(B)/总新喋呤(N)=48.6。确诊该病婴暂时性高苯丙氨酸血症。
This article reports a case of transient hyperphenylalaninemia patients, after 10 months of clinical observation and blood levels of dihydroterpore reductase (DHPR) and urinary pteridine profiles were analyzed. Control of sick baby food phenylalanine (phe) content and found that after 8 months, to restore free diet blood phe concentration has been maintained at 2mg / dI below. The sick baby had normal DHPR activity at 3 months but total biopterin (B) / total neopterin (N) in urine = 48.6. Diagnosis of the disease infants temporary hyperphenylalaninemia.