Important information about your genetic screening results
Your Maternal-Fetal Medicine Team
Understanding Genetic Changes
Genes are instructions in our cells that control how our bodies work.
Sometimes these instructions have small changes or mutations (changes in the genetic code).
Galactosemia is caused by an inherited genetic change that affects the GALT gene.
This genetic change is passed from parents to children through heredity. It is not caused by anything you did during pregnancy.
What Is Galactosemia?
Galactosemia is a rare genetic condition that affects how the body processes a sugar called galactose (a sugar found in milk and dairy products).
People with galactosemia cannot break down galactose properly.
When galactose builds up in the body, it can cause health problems.
Key Point
Galactosemia only affects people who inherit two changed genes (one from each parent).
This condition affects about 1 in 30,000 to 60,000 newborns.
How the Body Normally Processes Galactose
Your body uses a special protein called an enzyme (a protein that helps break down substances) to process galactose.
The main enzyme involved is called GALT.
This enzyme breaks down galactose into a form your body can use for energy.
In People Without Galactosemia
The GALT enzyme works normally. Galactose gets broken down and used by the body.
In People With Galactosemia
The GALT enzyme doesn't work properly. Galactose builds up and can cause damage.
What Happens If a Baby Has Galactosemia?
If a baby inherits two changed genes and has galactosemia, symptoms usually appear in the first few days of life.
Symptoms can include:
Poor feeding and weight loss
Vomiting and diarrhea
Yellowing of the skin (jaundice)
Liver problems
Cataracts (clouding of the eye lens)
Good News
When galactosemia is caught early through newborn screening, babies can be treated right away with a special diet. Early treatment prevents most serious health problems.
Your Carrier Status: What Does It Mean?
You are a carrier. This means you have one working gene and one changed gene.
What this means for YOU:
You do NOT have galactosemia
You will NOT develop symptoms
Being a carrier does not affect your health
You can eat dairy and drink milk normally
What this means for your baby:
Your baby's risk depends on your partner's genes.
About 1 in 190 people are carriers. Being a carrier is common and does not affect your health.
What This Means for Your Baby
If your partner is NOT a carrier (most likely):
0%
Chance baby will have galactosemia
If your partner IS a carrier (less common):
25%
Baby has galactosemia
50%
Baby is a carrier (like you)
We recommend testing your partner so we know your baby's risk and can plan together.
Next Steps: What Happens Now?
Step 1: Partner Testing
We recommend your partner gets tested to see if they are also a carrier.
This is a simple blood test or saliva test.
Step 2: If Both Partners Are Carriers
We can offer additional testing during pregnancy to see if the baby has galactosemia.
