Galactosemia

Definitions & Key takeaways

Galactosemia is an autosomal recessive disorder of galactose metabolism. People with galactosemia lack one of the enzymes that break down galactose, which results in the accumulation of certain toxins in the liver, brain, and eyes. Symptoms of galactosemia include diarrhea, vomiting, jaundice, and damage to the liver and brain..