Deficiency of this enzyme is one of the rarer, non-classic, causes of galactosaemia. The classic form of galactosaemia is associated with galactose-1-phosphate uridyltransferase (G1PUT) deficiency. Like G1PUT deficiency, galactokinase deficiency causes cataracts in the neonatal period, but the early systemic effects of galactokinase deficiency are less severe.
Do not test unless the common form of galactosaemia has been eliminated from diagnosis.
Heparin (green top)
Up to 6 weeks
Please contact lab prior to sending.
Not currently performed in house; this is a referred test.
Blood transfusion in the previous 6 weeks will invalidate result.