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已往报告的嘧啶代谢异常多为乳清酸尿症、二氧嘧啶尿症和嘧啶-5′-核苷酸酶缺陷症。据报告,近年来重新证明了嘧啶分解径路第一阶段的二氢嘧啶脱氢酶(DHPDH)缺损。症状为癫痫、孤独倾向及精神运动迟缓,有时伴有头发、关节异常,身体发育迟缓等,但缺少特异症状。有的伴有知觉障碍。未见合并血液、血清、免疫异常报告,生化检查仅发现1例血清尿酸上升。除新生儿病例外起病缓慢,有的病例4岁后才有失神发作。除新生儿期发病的1例外预后良好。多为近亲结婚,所有病例尿中二氢嘧啶、胸腺嘧啶排泄增加。图上所示的2个酶相同,作二氢嘧啶和胸腺嘧啶负
Previous reports of pyrimidine metabolic abnormalities were mostly whey aciduria, uridine pyrimidine and 5’-nucleotidase deficiency. It has been reported in recent years that the dihydropyrimidine dehydrogenase (DHPDH) defect in the first phase of the pyrimidine decomposition pathway has been re-proved. Symptoms of epilepsy, loneliness and mental retardation, sometimes accompanied by hair, joint abnormalities, physical retardation, but the lack of specific symptoms. Some accompanied by perceptual disorders. No combined blood, serum, immune abnormalities report, biochemical examination found only one case of serum uric acid rise. With the exception of neonatal cases onset is slow, and some cases after 4 years of absence seizures. In addition to an exception in the neonatal period, the prognosis is good. Mostly married relatives, all cases of urinary dihydropyrimidine, thymine excretion increased. The same 2 enzymes shown on the graph are negative for dihydropyrimidine and thymine