Maple syrup urine disease
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 for better ways to prevent and treat this condition. You can opt out of the register at any time.
Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body can't process certain amino acids.
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 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
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
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
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