Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Animals
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DNA, Complementary / chemistry
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Disease Models, Animal
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Female
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Galactosemias / enzymology*
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Galactosemias / genetics
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Heterozygote
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Liver / enzymology
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Male
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Mice
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Mice, Knockout
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Phenotype
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UDPglucose-Hexose-1-Phosphate Uridylyltransferase / deficiency*
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UDPglucose-Hexose-1-Phosphate Uridylyltransferase / genetics
Substances
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DNA, Complementary
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UDPglucose-Hexose-1-Phosphate Uridylyltransferase