galt gene

What are the toxicological implications of untreated galactosemia?

Untreated galactosemia can lead to a range of toxic effects due to the buildup of galactose and its derivatives. The toxicological implications include hepatic toxicity, which can progress to cirrhosis, nephrotoxicity resulting in renal failure, and neurotoxicity that may cause developmental delays and intellectual disabilities. The accumulation of galactose also leads to the formation of galactitol, a sugar alcohol that contributes to the development of cataracts by osmotic stress in the lens of the eye.

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