Thelansis

  Galactosemia or Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism due to a severe deficiency of the enzyme galactose-1-phosphate uridyltransferase that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose to uridine diphosphate galactose and glucose-1-phosphate. Upon consuming lactose in the neonatal period, the affected infants develop a potentially lethal disease process with multiorgan involvement. Complications include feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve, and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems, and abnormalities of motor function...