GALK1 : galactokinase 1
Description
GALK1, encodes the enzyme galactokinase, a crucial player in galactose metabolism. This enzyme catalyzes the first step in galactose breakdown, converting galactose into galactose-1-phosphate. A deficiency in GALK1 leads to the rare genetic disorder galactokinase deficiency, characterized by the inability to properly metabolize galactose. This deficiency can cause various symptoms ranging from mild to severe, depending on the severity of the mutation.
Associated Diseases
Did you know?
Galactokinase deficiency can cause an unusual condition called galactose-induced cataract, clouding of the lens of the eye.
