Maple syrup urine disease
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.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body can't process certain amino acids.
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,
Symptoms
Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include: sweet-smelling urine and sweat poor feeding or loss of appetite weight loss Babies
Treating MSUD
Diet Children diagnosed with MSUD are first referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of amino acids your baby receives, especia
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 bab
Information about your child
If your child has MSUD, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look fo
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