MAPLE SYRUP URINE DISEASE: A REPORT OF 26 CASES IN THE PHILIPPINES

Maple syrup urine disease (MSUD) is an autosomal recessive disorder in the oxidative decarboxylation of branched chain alpha-ketoacids (BCKAs) derived from leucine, isoleucine, and valine. Impaired activity of the branched chain ketoacid dehydrogenase complex causes MSUD's heterogenous clinical phenotype. Severity of the disease ranges from classical to mild variant types, thus the diagnosis is often overlooked and considered least likely to occur in clinical practice. In the Philippines, the local incidence has not been reported as yet. Using two-dimensional thin layer paper chromatography, we describe here 26 cases of MSUD diagnosed in different hospitals in the country from 1992 to 1998. A review of their demographic data, symptomatology, diagnosis, management and outcome is presented. Our results depict heretofore the importance of early detection of MSUD to ensure reduced morbidity, mortality, and length of hospitalization for these patients.