This disease is inherited in an autosomal recessive fashion.
Galactokinase catalyzes the first step of galactose metabolism from galactose to galactose-1-phosphate.
Deficiency of galactokinase causes marked accumulation of galactose and galactitol in the blood and urine.
Unlike classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy and is relatively benign.
Galactitol, which is a product of an alternative route of galactose metabolism, can accumulate in the lens of the eye and cause cataracts during the first weeks or months of life.
Infants with galactokinase deficiency may present with failure to develop a social smile due to infantile cataracts.
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