Thursday, February 13, 2014

What is galactosemia?

"Galactosemia is an inherited disorder that prevents a person from processing the sugar galactose, which is found in many foods."

Galactosemia is a rare disorder where your body is missing an enzyme (called GALT). This enzyme is what the body uses to break down galactose into glucose and lactose. Without the enzyme, the body begins to accumulate too much galactose and it becomes harmful. The build up can lead to other complications such as cataracts, learning disabilities, speaking disabilities, and the enlargement of the liver and spleen. This disorder occurs in approximately 1 in every 55,000 newborns.

This disorder is recessive, which means the carriers will not be aware they they're carrying a defective gene. The parents tend to have the genotype (gg). 

For more information visit www.liverfoundation.org

This picture shows that there's a 25% chance the newborn will have the disorder and a 50% chance the newborn will be a carrier for the gene defect. 

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