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MAPLE SYRUP URINE DISEASE
Maple Syrup Urine Disease is also referred to as MSUD and affects children. It is a type of autosomal recessive disorder and is called branched-chain ketoaciduria. The most common symptom here would be the individual having a sweet smelling urine during or prior to the disorder. The smell is almost similar to that of maple syrup. Other symptoms that follow include lethargy, vomiting, inability to eat, etc.
HOW IS MAPLE SYRUP URINE DISEASE DIAGNOSED?
These tests may be done to check for this disorder:
• Plasma amino acid test
• Urine organic acid test
• Genetic testing
There will be signs of ketosis (buildup of ketones, a byproduct of burning fat) and excess acid in the blood (acidosis).
HOW IS MAPLE SYRUP URINE DISEASE TREATED?
Paediatrics use different modes of treatments for managing and treating MUSIC, which includes liver transplant, relaxed lifestyle, changes in diet and also avoiding certain kinds of foods that trigger the same.
DID YOU KNOW?
There is no absolute cure for this illness and surgery is often used as a last resort. Though rarely occurring, this is disease happens mostly in Amish, Mennonite, and Jewish groups.