How MSUD is inherited

The geneticchange (mutation) responsible for MSUD is passed on by the parents, who usually don't have any symptoms of the condition. This is known as autosomal recessive inheritance.

This means a baby needs to receive two copies of the altered genes to develop the condition one from their mother and one from their father. If the baby only receives one mutated gene, they'll just be a carrier of MSUD.

If you're a carrier of the affected genes and you have a baby with a partner who's also a carrier, your baby has:

  • a 25% chance of developing the condition
  • a 50% chance of being a carrier of MSUD
  • a 25% chance of receiving a pair of normal genes

Although it's not possible to prevent MSUD, it's important to let your midwife and doctor know if you have a family history of the condition. Any further children you have can be tested for the condition as soon as possible and given appropriate treatment.

You may also wish to consider genetic counselling for support, information and advice about genetic conditions.

Content supplied by the NHS Website

Medically Reviewed by a doctor on 21 Dec 2018