Diagnosing MSUD

At around five days old, babies are offered newborn blood spot screening to check if they have MSUD. This involves pricking your baby's heel to collect drops of blood to test.

If MSUD is diagnosed, treatment can be given straight away to reduce the risk of serious complications. With early diagnosis and the correct treatment, the outcome can be greatly improved. However, treatment for MSUD must be continued for life.

Without treatment, severe and life-threatening symptoms can develop, including seizures (fits) or falling into a Coma . Some children with untreated MSUD are also at risk of brain damage and developmental delay.

Around1 in 185,000 children worldwide are thought to be affected by the condition.

Content supplied by the NHS Website

Medically Reviewed by a doctor on 21 Dec 2018