Maple-Syrup-Urine Disease
- 24 December 1964
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 271 (26) , 1338-1341
- https://doi.org/10.1056/nejm196412242712603
Abstract
MAPLE-syrup-urine disease is now well documented as being an inborn error of metabolism.1 The purpose of this paper is to present another case of the disease in an infant boy, together with his family pedigree and a report of the emergency measures taken to arrest the fatal course of the disease. Further studies2 on leucine loading of the immediate members of the family have been reported.Case ReportA 12-day-old male infant was examined at the Cleveland Clinic on October 24, 1963, because of continuous convulsions for 6 days. Pregnancy, labor and delivery had been normal and full term, and . . .Keywords
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