Untreated infants die in the first few weeks of life. MSUD also occurs in an intermittent form and a mild form. Even the mildest form, MSUD results in retardation and bouts of acidosis precipitated by stresses such as illness. Genetic counseling is suggested for prospective parents with a family history of maple syrup urine disease. Acute acidosis is treated to restore normal pH. Peritoneal dialysis can be used to remove the high levels of amino acids .
Strict compliance is necessary to prevent neurological damage.
The diet includes a synthetic infant formula without the amino acids leucine, isoleucine, and valine. Affected people must remain on this diet permanently. 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. Call your health care provider if you have a family history of MSUD and are contemplating starting a family.