A Mouse Model of Galactose-1-Phosphate Uridyl Transferase Deficiency

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...

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Bibliographic Details
Published in:Biochemical and molecular medicine 1996-10, Vol.59 (1), p.7-12
Main Authors: Leslie, Nancy D., Yager, Karen L., McNamara, Pamela D., Segal, Stanton
Format: Article
Language:English
Subjects:
Animals
Disease Models, Animal
DNA, Complementary - chemistry
Female
Galactosemias - enzymology
Galactosemias - genetics
Heterozygote
Liver - enzymology
Male
Mice
Mice, Knockout
Phenotype
UDPglucose-Hexose-1-Phosphate Uridylyltransferase - deficiency
UDPglucose-Hexose-1-Phosphate Uridylyltransferase - genetics
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Description
Summary: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.
ISSN:1077-3150
1095-5577
DOI:10.1006/bmme.1996.0057