Maple syrup disease: a standard of nursing care

Maple syrup disease (MSD) is an inherited metabolic disease that has the capacity to kill or cause severe neurological damage. Historically, patients with MSD have had a poor long-term prognosis. A comprehensive method of treating these patients has brought notably improved outcomes. Using this approach with children, they can now achieve normal growth and development. They no longer need to undergo dialysis to decrease toxic levels of leucine. Favorable outcomes can be obtained by addressing the treatment variables of caloric intake, essential amino acid intake, adequate isoleucine, valine, glutamine, and alanine supplementation under careful medical supervision. The care provider's knowledge of the pathophysiology of MSD and thoughtful care addressing neurological status, cerebral edema, fluid and electrolyte management, nutrition, education, and psychosocial issues may enable the ill child to make a full recovery without serious sequelae.