Cohen B E, Szeinberg A, Quint J, Normand M, Blonder J, Peled I
Isr J Med Sci. 1985 Jun;21(6):520-5.
A defect in the synthesis of dihydrobiopterin was detected in an Arab girl, ascertained through high blood phenylalanine level on neonatal screening. An oral loading test with tetrahydrobiopterin (BH4) caused a significant fall in her blood phenylalanine and a rise in tyrosine concentrations. Her blood biopterin levels were low. In urine and cerebrospinal fluid (CSF) very high neopterin and low biopterin levels were observed. A deficiency of metabolites of neurotransmitters, serotonin and dopamine, was observed in CSF and urine. The patient was given replacement therapy of BH4, 5-hydroxytryptophan, and L-dopa with carbidopa starting from the age of 16 to 18 weeks. On this treatment the blood phenylalanine levels dropped to the desired range, while in urine and CSF a satisfactory rise of neurotransmitter metabolites was observed. In spite of this biochemical control, the patient developed neurological symptoms with myoclonic jerks and changes in muscle tone and presented severe cerebral damage with mental retardation. She died suddenly at the age of 38 weeks.
通过新生儿筛查发现一名阿拉伯女孩血苯丙氨酸水平升高，检测到其二氢生物蝶呤合成存在缺陷。口服四氢生物蝶呤（BH4）负荷试验导致其血苯丙氨酸显著下降，酪氨酸浓度升高。她的血生物蝶呤水平较低。在尿液和脑脊液（CSF）中观察到新蝶呤水平非常高而生物蝶呤水平较低。在脑脊液和尿液中观察到神经递质5-羟色胺和多巴胺的代谢产物缺乏。该患者从16至18周龄开始接受BH4、5-羟色氨酸和左旋多巴加卡比多巴的替代治疗。经过这种治疗，血苯丙氨酸水平降至理想范围，同时在尿液和脑脊液中观察到神经递质代谢产物有令人满意的升高。尽管有这种生化控制，但该患者仍出现了伴有肌阵挛性抽搐的神经症状、肌张力改变，并出现严重脑损伤伴智力发育迟缓。她在38周龄时突然死亡。
