Maple Syrup Urine Disease and Alcaptonuria  

Maple syrup urine disease (MSUD) is a rare but serious inherited condition.

It means the body cannot 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 foods such as meat and fish into amino acids. Any amino acids that are not needed are usually broken down and removed from the body.

Babies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Very high levels of these amino acids are harmful.

One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name.

At around 5 days old, babies are offered newborn blood spot screening to check for inherited conditions like MSUD. This involves pricking your baby's heel to collect drops of blood to test.

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