Galactokinase deficiency is an autosomal recessive disorder that causes in humans. Homozygotes develop cataracts within the first year of life; heterozygotes develop cataracts at a later age. The long term objective of this proposal is make an animal model for galactokinase deficiency. As a starting point, the mouse galactokinase gene will be isolated in order to insert this gene (after designing it to produce a null mutation) into mouse blastocysts to produce a transgenic mouse with galactokinase deficiency. The galactokinase deficient mouse will serve the scientific community as a galactosemic animal model to study a) galactose metabolism, b) cataract, retinopathy and peripheral neuropathy, c) efficacy of aldose reductase inhibitors, and d) most importantly as an animal model to study gene therapy of galactosemia.
