半乳糖激酶缺乏症患者红细胞中的尿苷核苷酸糖。

Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency.

作者信息

Xu Y K, Ng W G, Kaufman F R, Donnell G N

机构信息

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles.

出版信息

J Inherit Metab Dis. 1989;12(4):445-50. doi: 10.1007/BF01802040.

DOI:10.1007/BF01802040

PMID:2516175

Abstract

The levels of UDPglucose and UDPgalactose (UDPGal) have been measured in erythrocytes of seven patients with galactokinase deficiency. Normal levels of UDPGal were found in all patients with galactokinase deficiency (McKusick 23020). This is in contrast with reduced values of UDPGal found in patients with classical galactosaemia who have complete absence of galactose-1-phosphate uridyl transferase activity. It was demonstrated that patients with galactokinase deficiency had an incomplete enzyme block in erythrocytes by direct enzyme assay, by 14CO2 production from [1-14C]galactose, and by the appearance of labelled intermediates, notably galactose-1-phosphate and UDPhexose.

摘要

已对7名半乳糖激酶缺乏症患者的红细胞中的UDP葡萄糖和UDP半乳糖（UDPGal）水平进行了测量。在所有半乳糖激酶缺乏症患者（麦库西克23020）中均发现UDPGal水平正常。这与经典半乳糖血症患者中UDPGal值降低形成对比，经典半乳糖血症患者完全缺乏1-磷酸半乳糖尿苷转移酶活性。通过直接酶测定、[1-14C]半乳糖产生14CO2以及标记中间体（尤其是1-磷酸半乳糖和UDP己糖）的出现，证明半乳糖激酶缺乏症患者的红细胞中存在不完全的酶阻断。