People
OF RARE
Maple Syrup Urine Disease
Also known as MSUD for short
What? Maple Syrup Urine Disease is a rare genetic disorder characterized by deficiency of certain enzymes required to metabolize specific amino acids in the body. The amino acids along with their various byproducts, abnormally accumulate in the cells and fluids of the body, causing a variety of symptoms.
Who? MSUD can affect anyone and the frequency in the general population is 1 in 185,000 people. However, MSUD occurs more frequently in the Amish population with a frequency of 1 in 176.
When? Onset of symptoms can vary from case to case. Usually symptoms occur during the first year of life.
Where? MSUD affects all parts of the body, but characterized by the smell of the sweat and urine of the patient.
Why? MSUD is an autosomal recessive trait.
Symptoms: Lethargy, irritability, poor feeding, abnormal movements and a characteristic odor of maple syrup in the earwax (cerumen), sweat and urine of affected individuals, thus the name for the rare disease.
Treatment: Maple Syrup Urine Disease can be treated through a specialized diet.
Click here for more information on Maple Syrup Urine Disease
Here is a video telling the story of a very strong little boy and his parents and their daily struggles with Maple Syrup Urine Disease. This video can be found on the MSUD Family Support Group website. Click here to visit the website.
