Maple Syrup Urine Disease BY: Alex benavidez

What causes this?

Maple Syrup Urine Disease (MSUD) is a inherited disorder from birth. Is when the body is unable to process certain protein building blocks (amino acids) properly. The build up of the amino acids can be harmful to the brain. The urine of the disease has a sweet smell to it also. But the symptoms can also be deadly. The symptons of MSUD is poor feeding, vomiting, lack of energy, and developmental delay. If MSUD is untreated it can lead to seizures, comas and death.

What chromosome has it?

Mutations in the BCKDHA, BCKDHB, and DBT genes can cause MSUD. These three genes are instructions for making proteins that work together. The protein is breaking down the amino acids leucine, isoleucine, and valine, which are in many kinds of food, protein-rich foods such as milk, meat, and eggs.

Phenotype and physical features

Having MSUD can have physical traits by having poor weight gain, changes in muscle tone, and muscle spasms. It can effect a lot in your body if you don't get it treated. You can have kidney damage, brain damage, and enlarged liver.

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