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Ency. home > Disease > M > Maple syrup urine disease

Maple syrup urine disease   

Overview | Symptoms | Treatment | Prevention

Alternative names:

MSUD

Treatment

Treatment of the acute episode:

  • Acute acidosis is treated to restore normal pH.
  • Stop protein in diet as this is a protein intolerance disease.
  • High levels of intravenous fluid, sugar and fat are important to prevent dehydration and provide energy to stimulate protein synthesis which lowers the levels of the amino acids which cannot be broken down.
  • Peritoneal dialysis can be used to remove the high levels of amino acids.
  • Prompt institution of a special diet that is free of branch chain 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 with low levels of the amino acids leucine, isoleucine, and valine.

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

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. With strict dietary treatment, children have grown up healthy and able to attend college.

Complications

  • Neurological damage, for example lower IQ if poorly treated
  • Acidosis episodes (may be fatal)

Call Your Health Care Provider If:

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

Ency. home > Disease > M > Maple syrup urine disease

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