Im creating this guide for a personal reason because one of my nephews has this condition and I want to raise awareness about it. Hes at the age where hes starting to wish he was "normal" like others.
The short of it is that people with MSUD cannot eat protein. That's right. No meat, eggs, bread, milk, butter, nuts or anything that has protien. Has to drink a speciasl formula every day.
The formula cost $1,000 a month. I'm making this guide because anyone that works with kids need to know how important their diets are. One cookie could caused major problems in some cases.
Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. .
Urine in persons with this condition can smell like maple syrup. Hens the name of the condition. As funny as the name may seem the condition is far from it.
Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the amino acids leucine, isoleucine, and valine.
This leads to a buildup of these chemicals in the blood. In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).
Some types of MSUD are mild or come and go. Even in the mildest form, repeated periods of physical stress can cause mental retardation and high levels of leucine.
Symptoms: Avoiding food, Coma, Feeding difficulties, Lethargy, Seizures, Urine that smells like maple syrup, Vomiting
Signs and tests: Plasma amino acid test, Urine amino acid test. There will be signs of ketosis and excess acid in blood (acidosis).
Please google "MSUD" to learn more.
My nephew is doing great. If you meet him you'd never know his condition. But imagine being in class and being the only one that cant eat the birthday cake.
Or the teacher not understanding the condition and giving him a small slice. It's a rare condition but worth knowing about.