Galactokinase deficiency

Definition:

Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the eye is converted in galactitol and causes ultimately cataracts. The condition can be treated by removal of galactose and lactose from the diet.

References:

[1]. Federica Sangiuolo, et al. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. [Content Brief]

[2]. M Asada, et al. Molecular characterization of galactokinase deficiency in Japanese patients. J Hum Genet. 1999;44(6):377-82. [Content Brief]

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