腺嘌呤磷酸核糖转移酶缺乏症的特征描述。

Characterization of an adenine phosphoribosyltransferase deficiency.

作者信息

Chiba P, Zwiauer K, Müller M M

机构信息

Department of Medical Chemistry, Pediatrics and Surgery, University of Vienna, Austria.

出版信息

Clin Chim Acta. 1988 Mar 15;172(2-3):141-7. doi: 10.1016/0009-8981(88)90318-x.

DOI:10.1016/0009-8981(88)90318-x

PMID:3370830

Abstract

A case of adenine phosphoribosyltransferase deficiency in a 4.5-yr-old boy is described. A pedigree of the family, enzyme activities and kinetic data of the enzyme in the propositus and the carriers of the defect are presented. The amount of enzyme in the patient was about 2% of that in healthy subjects and correlated well with the amount of immunoreactive protein. Our data indicate that the patient's enzyme is not affected in its catalytic properties, but is made in far reduced amounts.

摘要

本文描述了一名4.5岁男孩腺嘌呤磷酸核糖转移酶缺乏症的病例。文中给出了该家族的系谱、先证者及缺陷携带者体内该酶的活性和动力学数据。患者体内该酶的量约为健康受试者的2%，且与免疫反应性蛋白的量密切相关。我们的数据表明，患者的酶催化特性未受影响，但产量大幅降低。