Maple syrup urine disease

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Maple syrup urine disease

Alternative Names:

MSUD

Treatment:

Treatment of the acute episode:

Acute acidosis is treated to restore normal pH.
Because this is a protein intolerance disease, protein is cut from the diet.
High doses of intravenous fluid, sugar and fat are given to prevent dehydration and provide energy to stimulate protein synthesis, which lowers the levels of the amino acids that cannot be broken down.
Peritoneal dialysis or hemodialysis are used to remove the high levels of amino acids.
A special diet free of branched-chain amino acids is started immediately.

Long range treatment requires a special diet. Strict compliance is necessary to prevent neurological damage. This requires close supervision by a registered dietitian and a physician, and parental cooperation. The diet includes a synthetic infant formula with low levels of the amino acids leucine, isoleucine, and valine.

Frequent blood testing for amino acid levels allows doctors and dieticians to adjust the balance of these branched-chain amino acids so that they are neither deficient nor in excess. Affected people must remain on this diet permanently.

Expectations (prognosis):

If left untreated, life-threatening neurological damage may result. Even with dietary treatment, stressful situations and illness can still cause bouts of acidosis. Death may occur during these episodes. With strict dietary treatment, children have grown into healthy adulthood.

Complications:

Neurological damage such as low IQ, if poorly treated
Possibly fatal acidosis episodes

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: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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