Maple syrup urine disease

Treatment:

Treatment of the acute episode:

• Acute acidosis is treated to restore normal pH.
• Peritoneal dialysis can be used to remove the high levels of amino acids.

Long range treatment:
Treatment includes a special diet. Strict compliance is necessary to prevent neurological damage. This requires close supervision by a registered dietitian or physician, and cooperation by parent(s). The diet includes a synthetic infant formula without the amino acids leucine, isoleucine, and valine. Affected people must remain on this diet permanently.

Expectations (prognosis):

If left untreated, life-threatening neurological damage may result. Despite dietary treatment, stressful situations can still precipitate bouts of acidosis and death may occur during these episodes.

Complications:

• neurological damage
• acidosis episodes (may be fatal)

Calling your health care provider:

Call your health care provider if you have a family history of MSUD and are contemplating starting a family. Also call if you have a newborn who exhibits symptoms suggestive of maple syrup urine disease.