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Maple syrup urine disease (MSUD): heel prick screening

About maple syrup urine disease

Maple syrup urine disease (MSUD) is a very rare inherited condition.

Babies with MSUD cannot break down certain amino acids. These amino acids then build up in the blood and urine, which can be harmful.

Your baby's urine may smell like maple syrup, which gives the disease its name.

Without treatment, MSUD can cause life-threatening problems within a few days of birth. These include fits, comas, brain damage or developmental delay.

Babies in Ireland with MSUD

MSUD affects around 1 in 155,200 babies born in Ireland. One altered gene is inherited from each parent.

How heel prick screening can help

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

Your baby will be put on a special diet. As they grow up, your child will need to stick to this special diet for life.

Babies treated early should have normal brain development and good health, once they adhere to the treatment.

However, milder forms of MSUD may not be detected by screening as the condition can start later in life.

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