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Molecular Investigations In The Role Of The Galk1 Gene In Galactokinase Deficiency, Michael L. Hunter

Theses : Honours

Galactokinase deficiency is an autosomal-recessive inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. This metabolic disorder is caused by defects in the first enzyme of the Leloir pathway, galactokinase, encoded by the gene GALK1 on chromosome 17q24. Despite the identification of a number of conserved domains in GALK1, understanding of the functional significance of these regions and the molecular basis of the disorder is limited. This is largely due to the rarity of the disease and the fact that the small number of GALK1 mutations identified to-date are …