Galactokinase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Galactosemia type 2, GALK deficiency

Galactokinase deficiency is an autosomal recessive metabolic disease marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.^[1]

Galactokinase deficiency is an autosomal recessive metabolic disease caused by mutations in the GALK1 gene, located on chromosome 17q24.

Unlike classic galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of galactitol, a product of an alternative route of galactose utilization. Other known symptoms resulting from the cataract related visual deficit are failure to develop a social smile, and failure to visually track moving objects.

Galactokinase deficiency is treated with a diet low in galactose.^[2]

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