A mouse model of galactose-1-phosphate uridyl transferase deficiency

被引：72

作者：

Leslie, ND

Yager, KL

McNamara, PD

Segal, S

机构：

[1] CHILDRENS HOSP RES FDN,DIV DEV BIOL,CINCINNATI,OH 45229

[2] CHILDRENS HOSP,DIV BIOCHEM DEV & MOL DIS,PHILADELPHIA,PA 19104

来源：

BIOCHEMICAL AND MOLECULAR MEDICINE | 1996年 / 59卷 / 01期

关键词：

TRANSGENIC MICE; GALACTOSEMIA; GENE; GALACTITOL;

D O I：

10.1006/bmme.1996.0057

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative routes of galactose metabolism are important in the pathogenesis of galactosemia. (C) 1996 Academic Press, Inc.

引用

页码：7 / 12

页数：6

共 18 条

[1] THE EFFECT OF DIETARY FRUITS AND VEGETABLES ON URINARY GALACTITOL EXCRETION IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY [J].