![]() Worldwide, the estimated incidence of MSUD is 1:185,000 live births (Chuang & Shih, 2001 Nellis, et al., 2003). The golden period for the initiation of treatment before irreversible neurologic damage occurs is between 7 and 10 days (Strauss, 2006). Patients may develop seizures, and the progressive encephalopathy may lead to coma and death if left untreated (Chuang & Shih, 2001). Symptoms that may develop in the first week of life include vomiting, lethargy, poor suck, and irritability. Patients with MSUD appear normal at birth but may present with burnt sugar or maple syrup odor of the cerumen and urine within the 12th hour of life. This enzyme deficiency causes the accumulation of the branched chain amino acids leucine, isoleucine, and valine (Chuang & Shih, 2001). Maple syrup urine disease (MSUD) is a rare inborn error of metabolism resulting from a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. Newborn screening has been proven to improve outcome in patients with MSUD but the success of the program in preventing disability is also dependent on improvements in other aspects of healthcare. Hospitals in difficult-to-reach areas must be equipped to handle critical metabolic cases when transfers are not possible. Mechanisms of transfer of critically ill patients must be improved. Aside from early properly timed collection, improvement in other logistical concerns will also help in earlier diagnosis. The common challenges of MSUD management in a low-resource setting identified in this study were late diagnosis, lack of access to metabolic specialists and medical supplies, nosocomial septicemia, and protein deficiency. ![]() ![]() Several neurologic and non-neurologic complications have been observed during the follow-up of the patients. Out of the 24 diagnosed, 16 patients are alive, while eight have died. The most common complication during hospital admission was infection, needing intravenous antibiotics which were given to 21 of the patients. There were 24 patients diagnosed with maple syrup urine disease for the 2-year period. We described all patients with maple syrup urine disease patients diagnosed through newborn screening during its first 2 years of implementation and the challenges encountered during their medical management. MSUD has been reported to be the most common inborn error of metabolism in the Philippines.
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