Galactosemia Tests Test
A galactosemia test is a blood test given to newborns to check for a rare genetic disorder called galactosemia, which prevents the body from breaking down a sugar called galactose.
What this test measures
The test measures whether a baby has a deficiency in one of three enzymes (GALT, GALK, or GALE) that break down galactose. High levels of galactose and its byproducts in the blood indicate the disorder.
What your results mean
Reference ranges vary by laboratory and by your age and sex. MedlinePlus does not publish a single normal range for this test — always read your result against the range printed on your own lab report and discuss it with your provider.
Higher-than-normal results
A positive result means high levels of galactose or its byproducts are present, suggesting the baby may have galactosemia. Further testing is needed to confirm.
Frequently asked questions
What is a galactosemia test?
It is a blood test given to newborns to check for a rare genetic metabolic disorder called galactosemia.
Why is the test done?
The test helps diagnose galactosemia early so that treatment can prevent serious health problems like liver disease, kidney failure, brain damage, or death.
What do the results mean?
A negative result means your child does not have the disorder. A positive result means your baby may have galactosemia and will need more tests to confirm.
What are the types of galactosemia?
There are three types: GALT deficiency (classic galactosemia), GALK deficiency, and GALE deficiency. They are based on which enzyme is affected.
How is galactosemia inherited?
Galactosemia is inherited, meaning a baby must receive the gene from both parents to have the condition.
Related lab tests
Sources
- MedlinePlus: Galactosemia Tests — NIH MedlinePlus
Last updated . Information is aggregated from official public sources and is not a substitute for professional medical care.