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

Autor: De Castro-Hamoy LG; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines. ldhamoy@post.upm.edu.ph.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines. ldhamoy@post.upm.edu.ph., Chiong MA; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines., Estrada SC; Department of Pediatrics, Section of Clinical Genetics, University of the Philippines-Philippine General Hospital, Manila, Philippines.; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines., Cordero CP; Institute of Human Genetics-National Institutes of Health, University of the Philippines Manila, Manila Pedro Gil Street, Malate, 1000, P.O. Box 297, Manila, Philippines.
Jazyk: angličtina
Zdroj: Journal of community genetics [J Community Genet] 2017 Jan; Vol. 8 (1), pp. 9-15. Date of Electronic Publication: 2016 Oct 06.
DOI: 10.1007/s12687-016-0281-5
Abstrakt: 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. 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. There were 24 patients diagnosed with maple syrup urine disease for the 2-year period. 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 patients are alive, while eight have died. Several neurologic and non-neurologic complications have been observed during the follow-up of the patients. 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. Aside from early properly timed collection, improvement in other logistical concerns will also help in earlier diagnosis. Mechanisms of transfer of critically ill patients 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 with MSUD but the success of the program in preventing disability is also dependent on improvements in other aspects of healthcare.
Competing Interests: Compliance of ethical standards All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. For this type of study, formal consent is not required. The study was approved by the UP Manila Research Ethics Board of the Philippine General Hospital. Conflict of interest The authors declare that they have no conflict of interest.
Databáze: MEDLINE
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