Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.
Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.
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DOI：
10.1016/s0925-4439(98)00093-3
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发表时间：
1999-01
期刊：
影响因子：
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通讯作者：
C. Salerno;P. D'eufemia;R. Finocchiaro;M. Celli;A. Spalice;P. Iannetti;C. Crifó;O. Giardini
中科院分区：
文献类型：
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作者：
C. Salerno;P. D'eufemia;R. Finocchiaro;M. Celli;A. Spalice;P. Iannetti;C. Crifó;O. Giardini
给患有遗传性腺苷酸琥珀酶缺陷、严重精神运动性迟缓和癫痫的患者口服补充 10 mmol/kg/天的 d-核糖，会导致尿酸盐的血浆浓度和尿排泄量显着增加，同时琥珀酰嘌呤水平发生微小变化。服用 d-核糖后，行为略有改善，癫痫发作频率逐渐减少，两次尝试停药后癫痫发作频率急剧增加。用等量的 d-葡萄糖替代 d-核糖不会导致癫痫发作频率增加。
Oral supplementation of 10 mmol/kg/day of d-ribose to a patient with an inherited deficit of adenylosuccinase, severe psychomotor retardation, and epilepsy caused a marked increase in plasma concentration and urinary excretion of urate, while minor changes in succinylpurine levels were observed. d-Ribose administration was accompanied by a slight improvement of behaviour and a progressive reduction of seizure frequency, which increased dramatically upon two attempts to withdraw the drug. Substitution of d-ribose with an equivalent amount of d-glucose did not result in an increase of seizure frequency.