Keough D T, Gordon R B, de Jersey J, Emmerson B T
Department of Medicine, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Australia.
J Inherit Metab Dis. 1988;11(3):229-38. doi: 10.1007/BF01800364.
The concentration of hypoxanthine-guanine phosphoribosyltransferase (HPRT) cross-reacting material (CRM) was determined in haemolysates and/or lymphoblast lysates from nine patients with complete or partial deficiency of HPRT activity. Two of the patients had the fully developed Lesch-Nyhan syndrome and although they had undetectable HPRT activity, small amounts of CRM were found. HPRT-specific mRNA was not detected in lymphoblast lysates from one of these patients, while lysates from the other had a much reduced concentration. Samples from three patients with less than 0.1% of normal HPRT activity but with minor or no neurological manifestations were also found to contain small amounts of CRM. The other four patients whose HPRT activities ranged from 3 to 10% of normal were found to have CRM concentrations which varied from 26 to 100% of normal. In one patient with a partial deficiency the Km for 5-phospho-alpha-D-ribosyl-1-pyrophosphate was five times normal.
在9例次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）活性完全或部分缺乏的患者的溶血产物和/或淋巴母细胞裂解物中，测定了HPRT交叉反应物质（CRM）的浓度。其中2例患者患有完全型莱施 - 奈恩综合征，尽管他们的HPRT活性检测不到，但仍发现了少量的CRM。在其中1例患者的淋巴母细胞裂解物中未检测到HPRT特异性mRNA，而另1例患者裂解物中的浓度则大幅降低。3例HPRT活性低于正常水平0.1%但有轻微或无神经学表现的患者样本也被发现含有少量的CRM。另外4例患者的HPRT活性为正常水平的3%至10%，其CRM浓度在正常水平的26%至100%之间变化。在1例部分缺乏的患者中，5 - 磷酸 - α - D - 核糖 - 1 - 焦磷酸的Km值是正常的5倍。
