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A mouse model of galactose-1-phosphate uridyl transferase deficiency
N D Leslie1, K L Yager, P D McNamara
1Division of Human Genetics Children's Hospital Research Foundation, Cincinnati, Ohio 45229, USA.
Biochemical and Molecular Medicine
|October 1, 1996
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.