HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE VARIANTS - CORRELATION OF CLINICAL PHENOTYPE WITH ENZYME-ACTIVITY
HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE VARIANTS - CORRELATION OF CLINICAL PHENOTYPE WITH ENZYME-ACTIVITY
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DOI：
10.1007/bf02263652
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发表时间：
1981-01-01
影响因子：
4.2
通讯作者：
NYHAN, WL
中科院分区：
文献类型：
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作者：
PAGE, T;BAKAY, B;NYHAN, WL
低黄嘌呤-鸟嘌呤磷酸核糖基转移酶（HGPRT）的缺乏与多种临床表现相关，包括高尿酸血症、神经异常和奇怪的自残行为。由于通常的体外酶测定的技术问题，不可能建立酶缺乏程度与临床表现严重程度之间的相关性。通过将放射性前体掺入完整成纤维细胞嘌呤化合物的定量分析，测量了12例具有不同临床特征的患者的HGPRT活性。在完整成纤维细胞中测量的临床症状的严重程度和酶缺乏程度之间确实存在相关性。
A deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is associated with a varying clinical picture which may include hyperuricemia, neurological abnormalities and bizarre self-mutilating behavior. Due to technical problems with the usual in vitro enzyme assays, it has not been possible to establish a correlation between the degree of the enzyme deficiency and the severity of the clinical manifestations. The HGPRT activity of 12 patients with various clinical features was measured by quantitative analysis of the incorporation of radioactive precursors into purine compounds in intact fibroblasts. A correlation between the severity of the clinical symptoms and the degree of the enzyme deficiency as measured in intact fibroblasts does in fact exist.