Glutaric aciduria type 1 (GA1) is an inherited condition. It happens when a particular enzyme is missing or not working. The enzyme is called glutaryl-CoA dehydrogenase.
The body needs the enzyme to break down protein. Without this enzyme, harmful amino acids build up in the body.
These can cause:
- damage to the brain
- movement difficulties
- seizures or fits
- difficulty swallowing
Without early detection and treatment, GA1 can be very serious and even life-threatening.
Babies in Ireland with GA1
Around 1 in every 85,000 babies born in Ireland has GA1.
Babies with GA1 get one changed GA1 gene from each parent.
How heel prick screening can help
Babies are screened for GA1 as part of heel prick screening. They are offered heel prick screening when they are around 5 days old. This test also checks for other conditions.
A midwife or nurse takes a few drops of blood from your baby's heel using a special device.
If the heel prick suggests your baby may have GA1, they will be referred to a specialist.
Your baby will then be put on medicine and a special low-protein diet for life.
If their treatment starts early, your baby can have a healthy and active life.