We hypothesized that (a) increased RBC concentrations of galactitol and galactonate may be due to an increased dietary galactose intake in some patients and (b) these metabolites may be good markers, in addition to Gal-1-P, for assessing the metabolic burden in galactosemia because they are the products of alternative pathways of galactose metabolism (Fig.
Subsequent to the recognition of GALT deficiency, 2 additional enzymatic defects of galactose metabolism that also caused galactose accumulation were identified.