Galactosemia Tests: MedlinePlus Medical Test

What is a galactosemia take a look at?

A galactosemia exam is a blood exam given to newborns to check out for a exceptional genetic problem identified as galactosemia. This problem prevents the physique from breaking down a simple sugar termed galactose. Galactose is identified in many food items and all dairy solutions. This contains breast milk and milk-based child formulas.

Ordinarily, sure enzymes split down galactose. Galactosemia happens when a genetic modify has an effect on the function of these enzymes. There are a few forms of galactosemia. The form depends on which enzyme is affected:

  • GALT (galactose-1 phosphate uridyl transferase) deficiency. This is also regarded as typical galactosemia. It is the most popular and severe type of the condition.
  • GALK (galactose kinase) deficiency
  • GALE (galactose epimerase) deficiency

If a baby with a GALT, GALK, or GALE deficiency eats foodstuff with galactose, substantial stages of sugar develop up in the blood. This can guide to really serious well being difficulties. These incorporate liver disease, kidney failure, brain damage, and even death. But with early prognosis and procedure, young children with galactosemia can dwell wholesome lives.

Other names: galactosemia new child screening examination, GALT exam