There is no cure for GALT deficiency, in the most severely affected patients, treatment involves a galactose free diet for life. Early identification and implementation of a modified diet greatly improves the outcome for patients. The extent of residual GALT enzyme activity determines the degree of dietary restriction. Patients with higher levels of residual enzyme activity can typically tolerate higher levels of galactose in their diets. As patients get older, dietary restriction is often relaxed. With the increased identification of patients and their improving outcomes, the management of patients with galactosemia in adulthood is still being understood. After diagnosis, patients are often supplemented with calcium and vitamin D3. Long-term manifestations of the disease including ovarian failure in females, ataxia, and growth delays are not fully understood. Routine monitoring of patients with GALT deficiency includes determining metabolite levels (galactose<unk> -phosphate in red blood cells and galactitol in urine) to measure the effectiveness of and adherence to dietary therapy, ophthalmologic examination for the detection of cataracts and assessment of speech, with the possibility of speech therapy if developmental verbal dyspraxia is evident.
Galactose-1-phosphate uridylyltransferase deficiency
Arginine:glycine amidinotransferase deficiency
Ribose-5-phosphate isomerase deficiency
Malonyl-CoA decarboxylase deficiency
Ornithine aminotransferase deficiency
Galactose epimerase deficiency
Guanidinoacetate methyltransferase deficiency
Adenine phosphoribosyltransferase deficiency