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Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.

机译:中枢神经系统功能障碍和红细胞鸟苷三磷酸消耗在嘌呤核苷磷酸化酶缺乏症中。

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摘要

Developmental retardation was a prominent clinical feature in six infants from three kindreds deficient in the enzyme purine nucleoside phosphorylase (PNP) and was present before development of T cell immunodeficiency. Guanosine triphosphate (GTP) depletion was noted in the erythrocytes of all surviving homozygotes and was of equivalent magnitude to that found in the Lesch-Nyhan syndrome (complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency). The similarity between the neurological complications in both disorders indicates that the two major clinical consequences of complete PNP deficiency have differing aetiologies: neurological effects resulting from deficiency of the PNP enzyme products, which are the substrates for HGPRT, leading to functional deficiency of this enzyme. immunodeficiency caused by accumulation of the PNP enzyme substrates, one of which, deoxyguanosine, is toxic to T cells. These studies show the need to consider PNP deficiency (suggested by the finding of hypouricaemia) in patients with neurological dysfunction, as well as in T cell immunodeficiency. They suggest an important role for GTP in normal central nervous system function.
机译:发育迟缓是来自嘌呤核苷磷酸化酶(PNP)缺乏症的三名血统的六名婴儿的主要临床特征,并且在T细胞免疫缺陷发展之前就存在。在所有存活的纯合子的红细胞中都注意到三磷酸鸟苷(GTP)的耗竭,其程度与Lesch-Nyhan综合征(完全的次黄嘌呤-鸟嘌呤磷酸核糖基转移酶(HGPRT)缺乏)中的耗竭程度相同。两种疾病的神经系统并发症之间的相似性表明,完全PNP缺乏症的两个主要临床后果具有不同的病因:由PNP酶产物(其是HGPRT的底物)缺乏导致的神经学作用,导致该酶的功能缺陷。 PNP酶底物积累引起的免疫缺陷,其中之一是脱氧鸟苷对T细胞有毒。这些研究表明,在神经功能障碍以及T细胞免疫缺陷患者中,有必要考虑PNP缺乏(由低尿酸血症的建议)。他们建议GTP在正常的中枢神经系统功能中起重要作用。

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