Management of acute metabolic decompensation in maple syrup urine disease:A multi-center study

Background: Therapeutic modalities in acute metabolic decompensation in map le syrup urine disease (MSUD) are variable, and outcomes of each therapeuti c measure have been known only individually. Factors that affect neurologic al outcome are not clear. Methods: A questionnaire was sent throughout Japan to each pediatrician tre ating any of the 42 MSUD patients. Results: Necessary information was available for 13 patients through the qu estionnaire, and through a publication for one patient. In nine of the 14 p atients episodes of metabolic decompensation developed in the neonatal peri od. In the other five, the onset of disease was delayed until infancy or la ter. In the nine patients with neonatal onset, a pretreatment level of plas ma leucine greater than 40 mg/100 mL or a duration of altered level of aler tness longer than 10 days was associated with a poor neurological outcome. The therapeutic measures employed included intravenous infusion of glucose and electrolyte solution or hypertonic glucose and electrolyte solution, ex change transfusion, peritoneal dialysis, a large dose of thiamine and intra venous hyperalimentation. All patients had survivied the episodes and were alive at the time of the survey. Five of the nine patients with neonatal on set have developed neurological sequelae to varying degrees. Episodes of me tabolic decompensation in infancy or therafter did not affect, or only mini mally affected, the neurological outcome. Conclusion: Therapeutic goals. to improve neurological outcome are to short en the duration of the altered level of consciousness, and to minimize the peak plasma leucine level as much as possible.