次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症：6例阿根廷患者的生化及分子学研究结果
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
作者信息
Laróvere L E, O'Neill J P, Randall M, Fairbanks L D, Guelbert N, Czornyj L, de Kremer R Dodelson
机构信息
Centro de Estudio de las Metabolopatías Congénitas, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina.
出版信息
Nucleosides Nucleotides Nucleic Acids. 2007;26(3):255-8. doi: 10.1080/15257770701257269.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone. We report here the recognition of six Argentine patients, two with LND and four with HRND. All patients presented elevated excretion of uric acid, hypoxanthine, and xanthine and decreased HPRT enzyme activities <1 nmol/h/mg Hb. The molecular analysis demonstrated in the two LND patients a novel inherited transition mutation, c.203T >C (L68P), in one subject and a germline transition mutation, c.209G >A (G70E), in the other. In the HRND patients a novel transversion mutation, c.584 A >C (Y195S), was found in three related patients and an inherited transition mutation, c.143G >A (R48H), in the fourth subject.
次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HPRT）缺乏是一种嘌呤代谢的先天性缺陷，可导致莱施 - 奈恩病（LND）及其部分表型，即伴有神经功能障碍的HPRT相关性高尿酸血症（HRND）和单纯性高尿酸血症。我们在此报告识别出6例阿根廷患者，其中2例患有LND，4例患有HRND。所有患者均表现为尿酸、次黄嘌呤和黄嘌呤排泄增加，HPRT酶活性降低，<1 nmol/h/mg Hb。分子分析显示，两名LND患者中，一名存在一种新的遗传性转换突变，c.203T>C（L68P），另一名存在种系转换突变，c.209G>A（G70E）。在HRND患者中，在三名相关患者中发现了一种新的颠换突变，c.584 A>C（Y195S），在第四名患者中发现了一种遗传性转换突变，c.143G>A（R48H）。
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