Maple Syrup Urine Disease
Maple syrup urine disease is a disease most commonly inherited from both parents, meaning the genetic information must be passed from both parents to the child.
People who suffer from it can't break down a variety of amino acids (building blocks for protein), causing the body to build up harmful substances in the blood and urine.
(A regular person is able to break down amino acids, hence the ability to eat protein foods such as fish, meat, and chicken.)
MSUD?
Mutation
Symptoms?
Maple Syrup urine disease causes a sweet scent in the urine hence the ‘Maple syrup’. People who face maple syrup urine diseases suffer through a variety of symptoms such as:
inability to eat
vomiting
energy loss
abnormal movement
slow development
If these symptoms are left untreated it can lead to seizures, coma, and potentially death.
Mutations in the BCKDHA, BCKDHB, and DBT are what cause this disease. This is because these 3 genes are what provide directions for the making of protein.
These genes are also critical in breaking down certain amino Acids; leucine, isoleucine, and valine.
Changes in the genes force the body to not be able to process those Amino acids, therefore not processing protein-rich foods such as milk, meat, and eggs.
