What is Galactosemia?

Galactosemia is a genetic disorder that affects a person's ability to properly metabolize galactose. Galactose is found in all milk products and some other sources, such as tomato sauces and beets. It was discovered in 1908 by Von Reuss, who observed a breast-fed infant who failed to develop correctly and had an enlarged liver and spleen. This is common in patients with galactosemia. Symptoms include yellowing of the skin or whites of the eyes, vomiting, poor weight gain, feeding difficulties, irritability, convulsions, cataracts, intellectual disabilities, sepsis (full-body inflammation), cirrhosis (liver scarring), liver failure, kidney problems, swelling of the extremities of the abdomen, ovarian failure, and decreased bone mineral density.