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Homocystinuria (HCU): heel prick screening

About homocystinuria

Homocystinuria (HCU) is an inherited condition caused by an altered gene. It can cause a build up of certain amino acids in the blood.

High levels of these amino acids can lead to problems such as severe eye problems, impaired brain development, bone disorders, blood clots and possible strokes.

Babies born in Ireland with HCU

In Ireland around 1 in every 69,400 babies is born with HCU – roughly 1 baby every year.

If both parents carry the altered gene they have a 1 in 4 chance of having a baby with HCU.

How heel prick screening can help

If the heel prick suggests your baby may have HCU, they will be referred to a specialist. Babies with HCU benefit significantly from early diagnosis and treatment.

Your baby will then be put on a special diet and medication. This diet is for life and will greatly reduce the risk of them developing the problems that HCU can cause.

However, milder forms of HCU may not be detected by screening.

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