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Maple syrup urine disease

Alternative Names:

MSUD

Treatment:

Treatment involves a protein-free diet. During a flare up, fluids, sugars, and fats are given by IV. Peritoneal dialysis or hemodialysis are used to reduce the level of amino acids.

A special diet free of branched-chain amino acids is started immediately.

Long term treatment requires a special diet. The diet includes a synthetic 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 stick to this diet to prevent neurological damage. This requires frequent blood tests and close supervision by a registered dietitian and a physician, as well as parental cooperation.

Expectations (prognosis):

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.

Complications:

Coma
Death
Neurological damage

Calling your health care provider:

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 exhibits symptoms suggestive of maple syrup urine disease.

Review Date: 5/2/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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