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Glutaric aciduria type 1 (GA1): heel prick screening

About glutaric aciduria type 1

Glutaric aciduria type 1 (GA1) is an inherited condition. It occurs when a particular enzyme is missing or not working properly.

The body needs the enzyme to break down protein. Without the enzyme, harmful substances build up in the body. These can cause damage to the brain, movement difficulties, seizures and difficulty swallowing.

If GA1 is not detected and treated early, it can be life threatening.

Babies in Ireland with GA1

Around 1 in every 54,000 babies born in Ireland has GA1.

Babies with GA1 inherit one altered GA1 gene from each parent.

How heel prick screening can help

If the heel prick suggests your baby may have GA1, they will be referred to a specialist.

Your baby will then be put on a special low-protein diet and medication. This diet is for life.

Babies with GA1 benefit significantly from early diagnosis and treatment.

Page last reviewed: 28/11/2018
Next review due: 28/11/2021