Thelansis

  Classic galactosemia, a Type I disorder stemming from deficiency in the galactose 1-phosphate uridylyltransferase (GALT) enzyme, is an inherited condition affecting galactose metabolism. The primary treatment approach currently utilized, a diet restricted in galactose, addresses the neonatal symptoms but does not entirely prevent chronic issues that may arise. Mutations within the GALT gene, located on chromosome 9p13, lead to classic galactosemia by disrupting the function of the galactose-1-phosphate uridyltransferase enzyme. Variants of this gene, such as the Duarte variant, are associated with varying levels of enzyme activity, resulting in milder or absent symptoms of galactosemia. Symptoms typically manifest when affected individuals consume breast milk or lactose-containing formula, leading to feeding difficulties, failure to thrive, and indications of liver damage such as jaundice, bleeding tendencies, and hypoglycemia. Without appropriate intervention, which primarily ...