Maple syrup urine disease (MSUD) is a very rare inherited condition.
Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein.
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 condition its name.
Without treatment, MSUD can cause life-threatening problems within a few days of birth.
These include:
- fits
- comas
- brain damage
- developmental delay
Babies in Ireland with MSUD
Around 1 in 460,000 babies born in Ireland have MSUD.
One changed gene is inherited from each parent.
How heel prick screening can help
Babies are screened for MSUD 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 MSUD, they will be referred to a specialist.
Your baby will be put on a special diet to help manage their condition.
This diet is protein-restricted and includes important supplements.
These include:
- vitamins
- amino acids
- minerals
As your child grows up, they will need to stay on this diet for life.
Babies treated early should have normal brain development and good health.
Milder forms of MSUD may not be detected by screening. This is because the condition can start later in life.