AB107. Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country

Abstract: Maple syrup urine disease (MSUD) is a rare inborn error of metabolism resulting from a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. MSUD has been reported to be the most common inborn error of metabolism in the Philippines. This study describes all patients with MSUD patients diagnosed through newborn screening during its first two years of implementation and the challenges encountered during their medical management. We reviewed the medical records of all patients diagnosed with MSUD by newborn screening in the Philippines from its initiation in July 2012 to June 2014. There were 24 patients diagnosed with MSUD by newborn screening for the two-year period. The mean age at newborn screening is 4 days. All patients needed hospital admission. The most common complication during hospital admission was infection, needing intravenous antibiotics which were given to 21 of the patients. Out of the 24 diagnosed, 16 (66.67%) of patients are alive, while 8 (33.33%) have died. Several neurologic and non-neurologic complications have been observed during the follow-up of the patients. The common challenges of MSUD diagnosis and management in a low-resource setting identified in this study were late diagnosis, lack of access to metabolic specialists and medical supplies, nosocomial septicaemia, and protein deficiency. Aside from early properly-timed collection, improvement in other logistical concerns such as an efficient system of sending and delivery of samples will also help in earlier diagnosis. Mechanisms of transfer of critically ill patients, albeit challenging in our setting due to geographical concerns, must be improved. Hospitals in difficult-to-reach areas must be equipped to handle critical metabolic cases when transfers are not possible. Newborn screening has been proven to improve outcome in patients diagnosed to have MSUD but the success of the newborn screening program in preventing disability is also dependent on improvements in other aspects of healthcare.

Keywords: Maple syrup urine disease (MSUD); newborn screening