Maple syrup urine disease
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 with MSUD may also have episodes known as a metabolic crisis,sometimes early in their life. Symptoms of a metabolic crisis include:
- lack of energy
- vomiting
- irritability
- breathing difficulties
It's important to get medical help immediately if your baby develops symptoms of a metabolic crisis. Your doctor will give you advice to help you recognise the signs.
In some cases, a metabolic crisis may be triggered later in childhood by an infection or illness. The hospitalwill provide you with emergency treatment instructions to follow if your child is ill, which helps prevent these symptoms developing.
Medically Reviewed by a doctor on 21 Dez 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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