Galactosemia

Galactosemia is an inherited metabolic disorder in which an enzyme deficiency leads to an inability to metabolize the sugar galactose (a monosaccharide found in dairy and other foods). Symptoms of galactosemia include vomiting, diarrhea, and jaundice in newborns, failure to grow and gain weight, poor feeding, and poor muscle tone. If left untreated, galactosemia can lead to permanent organ damage, intellectual disabilities, and, in extreme cases, death. Early diagnosis and proper treatment are essential to preventing significant health problems and a normal lifespan. Treatment includes the elimination of dairy and other foods containing galactose from the diet, as well as regular monitoring of the levels of galactose in the blood.