How do mutations in the GALT gene affect human health?
Mutations in the GALT gene are responsible for classic galactosemia, an inherited disorder that affects the body's ability to process galactose. Individuals with this condition are unable to properly metabolize galactose, leading to the accumulation of galactose-1-phosphate in various tissues. This can result in severe toxicity, manifesting as liver dysfunction, kidney failure, cataracts, and neurological impairments. Early detection and management are crucial to prevent these toxic effects.
