Galactosemia Tests

A galactosemia test is a blood test given to newborns to check for a rare genetic metabolic disorder called galactosemia. Metabolic disorders affect metabolism, the process your body uses to make energy from the food you eat. Galactosemia can be inherited (passed down through families), but to have the condition, your baby has to receive the gene from both parents.

Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent. Galactosemia prevents a baby's body from breaking down a simple sugar called galactose.

Galactose is in many foods, including: Milk, milk-based baby formulas, and dairy products. These foods contain lactose, which is made up of galactose and glucose, another type of sugar.; Some fruits and vegetables.; Breast milk.; Normally, certain enzymes (proteins that speed up certain chemical reactions in your body) break down galactose. Galactosemia happens when a genetic change affects the function of these enzymes.

There are three types of galactosemia. The types are based on which enzyme is affected: GALT (galactose-1 phosphate uridyl transferase) deficiency, also known as classic galactosemia. It is the most common and severe form of the disorder.; GALK (galactose kinase) deficiency.; GALE (galactose epimerase) deficiency.; If a baby with a GALT, GALK, or GALE deficiency eats food with galactose, high levels of galactose and its byproducts build up in their blood.

This can lead to serious health problems. These include liver disease, kidney failure, brain damage, and even death. But with early diagnosis and treatment, children with galactosemia can live healthy lives.

How to prepare

There are no special preparations needed for a galactosemia test.

Sample type

Blood

Other names for this test

galactosemia newborn screening test, GALT test