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MAPLE SYRUP URINE DISEASE
Maple Syrup Urine Disease is a rare, inherited metabolic disorder that is characterized by the inability of the body to break down certain amino acids. Individuals with this condition have a distinct maple syrup smelling urine discharge. Symptoms include lethargy, poor appetite, weight loss, irritability and a maple syrup odour in earwax, sweat along with urine.
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?
The treatment involves eating a protein-free diet. Fluids, sugars, and sometimes fats are given through a vein (IV). Dialysis through your belly or a vein can be done to reduce the level of abnormal substances in the blood. Long-term treatment requires a special diet. For infants, the diet includes a formula with low levels of the amino acids leucine, isoleucine, and valine. People with this condition must remain on a diet low in these amino acids for life.
DID YOU KNOW?
In MSUD, the body does not have enzymes from a group called the branched-chain alpha-ketoacid dehydrogenase complex (BCKAD). BCKAD enzymes process three important amino acids: leucine, isoleucine, and valine.