Maple Syrup Urine Disease Julia wszolek

What is it?

It's a genetic disorder that is passed down through families and is caused by a defect in 1 in 3 genes. Basically, the body can't break down the amino acids leucine, isoleucine, and valine. Since they can't be be broken down, they build up in the body.

What are some other names?

Some other ways you can call this disorder are: maple syrup disease, MSUD, branched-chain ketoacid dehydrogenase, and BCKD deficiency.

What are the signs and symptoms?

Some symptoms of this disease are: comas, feeding difficulties, lethargy, seizures, urine that smells like maple syrup (hence the name), and vomiting. There is also an excess amount of acid in the blood and signs of ketosis.

How many births per year have this disorder?

Although the amount of births per year couldn't be found, trusted websites did state that MSUD affects 1 out of every 185,000 children that are born.

What population of people are most affected?

People at any age are affected but since you're born with this disorder, babies are affected the most. Studies have shown that Jewish people have the highest chance of being born with MSUD.

How is the disorder inherited?

Maple syrup urine disease is inherited through birth by a gene given from the mother or father. It's an autosomal recessive gene.

What are some complications?

If you are born with Maple Syrup Urine Disease, you can get some of the following complications: neurological damage, coma, the risk of death, and possible mental disabilities.

What are the treatments?

The only way you can "get rid" of MSUD is to have a strict, protein-free diet. You would have to eat foods that don't contain any traces of leucine, isoleucince, and valine since the body has trouble

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