GALACTOKINASE DEFICIENCY

'Galactokinase deficiency', also known as 'Galactosemia type 2' or 'GALK deficiency', is marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.^[1]

Contents

Causes

Treatment

See also

References

Causes

This is a congenital disease, and unlike galactose-1-phosphate uridyltransferase deficiency, the symptoms are relatively mild. The only known symptom in affected children is cataracts, which can present as a failure to develop a social smile, and failure to visually track moving objects.

Treatment

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

See also

★ Galactosemia

References

1. Galactose disorders: an overview, Holton JB, , , J. Inherit. Metab. Dis., 1990
2. Galactosemia: how does long-term treatment change the outcome?, Gitzelmann R, Steinmann B, , , Enzyme, 1984