Maple Syrup Urine Disease.
Maple syrup urine disease is a disease in an inherited disorder in which the body is unable to process certain protein building blocks (amino acid) properly. Urine in a person with this condition can smell like maple syrup. This disease can cause brain damage during times of physical stress.
Causes:
When the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein (IV). Peritoneal dialysis or hemodialysis can be used to reduce the level of abnormal substances.
Long term treatment requires a special diet. The diet includes a man-made infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently.
It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by the parents.
Maple syrup urine disease is a disease in an inherited disorder in which the body is unable to process certain protein building blocks (amino acid) properly. Urine in a person with this condition can smell like maple syrup. This disease can cause brain damage during times of physical stress.
Causes:
- Caused by gene defect.
- Person with this condition cannot break down the amino acid leucine, isoleucine, and valine.
- These lead to build up of chemicals in the blood.
- Avoiding food
- Coma
- Feeding difficulties
- Lethargy
- Seizures
- Urine that smell like maple syrup
- Vomiting
- Plasma amino acid test.
- Urine amino acid test.
When the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars, and possibly fats are given through a vein (IV). Peritoneal dialysis or hemodialysis can be used to reduce the level of abnormal substances.
Long term treatment requires a special diet. The diet includes a man-made infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently.
It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by the parents.