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• 01:04, 18 March 2026 Ostermayer talk contribs created page Galactosemia (Created page with "Galactosemia is an autosomal recessive disorder of galactose metabolism, most commonly caused by '''deficiency of galactose-1-phosphate uridylyltransferase (GALT)''', resulting in toxic accumulation of '''galactose-1-phosphate''' and '''galactitol''' in the liver, brain, kidneys, and lens.<ref name="GeneReviews">Classic Galactosemia and Clinical Variant Galactosemia. ''GeneReviews''. NCBI. 2021.</ref> Classic galactosemia is a '''neonatal emergency''' — affected infant...")