Maple syrup urine disease
Introduction
Maple syrup urine disease (MSUD) is a rare but serious inherited condition.
It means the body can't process certain amino acids (the "building blocks" of protein), causing a harmful build-up of substances in the blood and urine.
Normally, our bodies break down protein foodssuch asmeat and fish into amino acids. Any amino acids that aren't needed are usually broken down and removed from the body.
Babies with MSUD are unable to break down the amino acids leucine, isoleucine and valine. Very high levels of these amino acids are harmful.
One of thecharacteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name.
Medically Reviewed by a doctor on 28 Nov 2016
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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