What is Galactosemia?

 Considered a very 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 both parents. When both 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 is progressive, and can worsen as a child grows into an adult with symptoms such as tremors, seizures, increased cognitive delay, Premature Ovarian Insufficiency (POI) that causes infertility in many females, etc.

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 the disorder can take a fatal turn due to the fast decline of the liver and the formation of sepsis. After the disorder is caught and the diet is changed, a child may have life long effects from the initial exposure to Galactose + the Galactose their body. 

For more information, watch the video representation below + follow the links at the bottom of the page.