International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064


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Informative Article | Paediatrics | India | Volume 11 Issue 10, October 2022 | Popularity: 4.1 / 10


     

Rare Presentation: Maple Syrup Urine Disease as Severe Neonatal Metabolic Encephalopathy

Dr. Mounika Lakshmi, Dr. Mopuri Ramkishore


Abstract: Wereport 8 day old neonate who developed a progressive encephalopathy, after an apparent period of normalcy. Dried blood spots for tandem mass spectrometry confirmed elevation and excretion of branched chain amino acids. Molecular studies confirmed the diagnosis. This report highlights the need for early identification of these infants to optimize neurological outcomes.


Keywords: Inborn error of metabolism, Maple syrup urine disease, Neonatal metabolic encephalopathy


Edition: Volume 11 Issue 10, October 2022


Pages: 1117 - 1118



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Dr. Mounika Lakshmi, Dr. Mopuri Ramkishore, "Rare Presentation: Maple Syrup Urine Disease as Severe Neonatal Metabolic Encephalopathy", International Journal of Science and Research (IJSR), Volume 11 Issue 10, October 2022, pp. 1117-1118, https://www.ijsr.net/getabstract.php?paperid=MR221023125656