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 amino acids.

A special diet free of branched-chain amino acids is started when amino acid levels are normal. The health care provider will follow these levels closely, and will adjust the diet based on amino acid levels.

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.

This disease can be life threatening if untreated.

Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. Death may occur during these episodes. With strict dietary treatment, children have grown into healthy adulthood.

• Coma
• Death
• Neurological damage

Call your health care provider if you have a family history of MSUD and are planning to start a family. Also call immediately if you have a newborn who has symptoms of maple syrup urine disease.