Galactokinase (GALK) deficiency
Serious systemic manifestations are typically not seen in GALK deficiency, and cataracts are frequently the only manifestation (some developmental milestones (eg, social smile) may be impacted if they occur early in life).
Galactitol accumulates if diet has galactose.
Galactose-1-phosphate uridyl transferase (GALT) deficiency
Damage caused by accumulation of toxic substances (eg. galacitol).
Tip
Galactose-1-phosphate accumulates, resulting in a more severe disease when compared with other forms of galactosemia.
