PEDIATRICS Vol. 68 No. 6 December 1981, pp. 856-862
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Outcome of Early and Long-Term Management of Classical Maple Syrup Urine Disease

Carol L. Clow 1, Theresa M. Reade BA, RN1, and Charles R. Scriver MD, CM, FRSC1

1 De Belle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, and Departments of Biology and Pediatrics and Human Genetics Centre, McGill University, Montreal

The outcome of 8,400 treatment days in the lives of four patients with classical maple syrup urine disease (MSUD) (present ages: 13frac12, 57frac12, 71frac12, and 811frac12 years) are described. Each diagnosis was made by clinical signs rather than by newborn screening. Acute-phase treatment beginning on the 11th day of life comprised peritoneal dialysis, intravenous lipid, and early intestinal alimentation. Mean age at discharge from hospital was 29 days. There were 16 readmissions to the hospital for the group (89 days, 1.05% treatment days) without any serious neurologic symptoms. The mean level of plasma leucine for the group (for levels below 1 mM) during treatment was 0.42 mM (normal for age range, 0.077 ± 0.021 mM [mean ± SD]). Plasma leucine exceeded 1 mM during 1.02% of treatment days (representing 8.6% of 1,042 measurements. Mean levels of plasma valine and isoleucine were 60% and 70% of the plasma leucine value for the group. Tolerance for dietary leucine did not exceed 620 mg/day in any patient. Somatic growth was normal and the mean current IQ/development quotient (DQ) score is 101 (range 89 to 117); the three oldest patients attend regular schools. A characteristic EEG pattern resembling the teeth of a comb was observed in three patients during the acute phase in the newborn period but not during long-term treatment. These results were obtained in an ambulatory program with home visiting.

Submitted on December 22, 1980
Accepted on March 19, 1981




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[Abstract] [Full Text] [PDF]