暂时性高苯丙氨酸血症——二氢生物喋呤合成酶成熟延迟

TRANSIENT HYPERPHENYLALANINEMIA——Maturation Delay of Dihydrobiopterin Synthetase

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。

Among 12 infants who were diagnosed as PKU Patients by Guthrie's Bacterial Inhibition Assay (BIA) in our neonatal screening programme, one newborn has been clinically identified to suffer from hyperphenylalanemia after 10-month clinical observation and determinations of blood DHPR and urinary pterines profile. It was noted that blood Phe level of this infant could steadily remain within norrmal range (2mg/dl) on free diet 8 months after restriction of the dietary Phe concentration. At the age of 3 months, the activity of blood DHPR enzyme was demonstrated to be normal but the urinary ratio of total biopterine(B)/total neopterine(N) was shown to be 48.6. Based on the clinical data mentioned above, this case was eventually diagnosed as transient hyperphenylalaninemia, the pathological machnism of which is generally accepted to be the delayed maturition of DHBS enzyme in vivo.