What is a galactosemia examination?
A galactosemia examination is a blood examination specified to newborns to verify for a scarce genetic dysfunction called galactosemia. This dysfunction stops the body from breaking down a very simple sugar called galactose. Galactose is observed in a lot of foods and all dairy items. This features breast milk and milk-dependent newborn formulas.
Ordinarily, selected enzymes split down galactose. Galactosemia occurs when a genetic transform has an effect on the perform of these enzymes. There are 3 forms of galactosemia. The style relies upon on which enzyme is impacted:
- GALT (galactose-one phosphate uridyl transferase) deficiency. This is also known as basic galactosemia. It is the most widespread and intense form of the dysfunction.
- GALK (galactose kinase) deficiency
- GALE (galactose epimerase) deficiency
If a newborn with a GALT, GALK, or GALE deficiency eats food with galactose, large ranges of sugar establish up in the blood. This can lead to really serious well being issues. These include liver disorder, kidney failure, brain destruction, and even loss of life. But with early prognosis and treatment method, small children with galactosemia can are living healthy lives.
Other names: galactosemia new child screening examination, GALT examination