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What is Galactosemia?

Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to process the simple sugar galactose properly. Galactose is a component of lactose, the sugar found in milk and other dairy products. In individuals with galactosemia, the enzyme responsible for converting galactose into glucose is either deficient or absent altogether. This enzyme deficiency leads to the accumulation of galactose in the blood, which can be toxic and cause a range of serious health issues. Galactosemia is an inherited disorder, meaning it is passed down from parents to their children through genes. It is typically diagnosed shortly after birth through newborn screening tests. If left untreated, galactosemia can result in liver damage, intellectual disability, cataracts, and even death. Due to these risks, early diagnosis and dietary management are crucial in preventing the severe consequences associated with this condition. Treatment typically involves a strict galactose-free diet for life, which helps to avoid the complications associated with the accumulation of galactose in the body.

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