The toxicological significance of the GALK1 gene primarily involves its role in preventing the accumulation of toxic substances. When mutations occur in the GALK1 gene, they can lead to galactokinase deficiency, a condition that results in the accumulation of galactitol, a toxic sugar alcohol, in the body. This accumulation can have detrimental effects, particularly on the eyes, leading to cataracts, and potentially affecting other organs if not managed appropriately.
