Abstract
We describe the outcome of 8400 treatment days in the lives of four classical MSUD patients (present ages: 1 3/12, 5 7/12, 7 1/12 and 8 11/12 yrs). All were diagnosed on clinical signs (vs newborn screening). Acute-phase treatment, beginning on or before the 12th day of life, comprised peritoneal dialysis, intravenous lipid, and early intestinal alimentation. Mean age at discharge from hospital was 29 dy. Parents were taught to monitor urine keto acid excretion (by 2,4-DNPH reaction) and to make up weighed diets. There were only 16 readmissions to hospital for loss of metabolic control (plasma [leu] >1 mM) in the group (89 dys; 1.05% treatment days); serious neurological symptoms were avoided. The group mean plasma leucine level (for levels below 1 mM) during treatment was 0.44 mM (normal for age range, 0.077±0.021 mM; mean and SD); 8.6% of 1042 values exceeded 1 mM during treatment. Group mean plasma valine and isoleucine levels were 60% and 70% of the plasma leucine value. Tolerance for dietary leucine did not exceed 620 mg/dy in any patient. Somatic growth was normal and the mean current IQ/DQ score is 101; the three oldest patients attend normal schools. A characteristic EEG pattern was observed in 3 patients in the acute stage but not during long-term treatment. These results were obtained in an ambulatory program with home visiting.
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Clow, C., Reade, T. & Scriver, C. 709 OUTCOME OF EARLY AND LONG-TERM MANAGEMENT OF CLASSICAL MAPLE SYRUP URINE DISEASE. Pediatr Res 15 (Suppl 4), 560 (1981). https://doi.org/10.1203/00006450-198104001-00732
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DOI: https://doi.org/10.1203/00006450-198104001-00732