Your baby’s screening result – Glutaric aciduria type 1 (GA1) is suspected
Your baby’s newborn bloodspot test (heel prick test) suggests they may have glutaric aciduria type 1 (GA1), pronounced glue-ta-ric acid-ur-ee-a.
Your baby will need more tests to confirm whether they have GA1.
What is GA1?
GA1 is a rare but treatable inherited metabolic disorder.
Babies with GA1 do not have enough of an enzyme needed to break down part of the protein found in food. Without this enzyme, certain substances can build up in the body. If left untreated, GA1 can lead to serious illness and long term health problems.
With early diagnosis and treatment, babies with GA1 can grow and develop normally, and people with GA1 can live healthy, active lives.
What happens next?
A specialist metabolic team will arrange more tests to confirm whether your baby has GA1.
It may take a few days for you to receive the results of these tests.
If your baby becomes unwell or you are worried they aren’t feeding properly, please get medical help.
If tests confirm that your baby has GA1, you will receive further support and care from the specialist team. They will explain the condition in more detail, answer your questions and start treatment quickly.
How you might be feeling:
It’s completely natural to feel worried or unsure when your baby needs further tests. You can find more information and support from the following groups:
Metabolic Support UK
- Website: www.metabolicsupportuk.org
- Phone: 0845 241 2173 or 0800 652 3181
- Email: [email protected]
The British Inherited Metabolic Diseases Group (BIMDG) website has a useful booklet about GA1