What is Galactosemia?

Considered an ultra rare disorder, Galactosemia effects only 60-70 babies born in the U.S. each year (out of 4 million), and must be passed down genetically from birth parents. When 2 parents pass down a mutated recessive gene that carries Galactosemia, it prevents the enzyme GALT from forming, which is responsible for breaking down the simple sugar Galactose. When Galactose isn’t broken down, toxins enter the body by attaching to red blood cells and damage vital organs such as the brain, kidneys, liver, eyes, and reproductive organs. It is very likely that damage happens in utero, but any Galactose exposure (including Galactose the body makes) creates a disorder that can worsen as a child grows into an adult with symptoms such as tremors, seizures, increased cognitive delay, Premature Ovarian Insufficiency (POI), female infertility, etc. Every person with Galactosemia has a different outcome, some more severe than others, however the most prevalent symptoms in many patients are speech delays (with sounds and cognitive speech), slow processing speed, struggles with memory, learning disorders, and infertility in female patients.

A baby with Galactosemia will be born healthy, but as days progress will become very ill. If the disorder is not caught in the first 10 days of life, then the disorder can take a fatal turn due to the fast decline of the liver and the formation of sepsis. More information can be found at www.galactosemia.org.