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

How to Cite?: Dr. Mounika Lakshmi, Dr. Mopuri Ramkishore, "Rare Presentation: Maple Syrup Urine Disease as Severe Neonatal Metabolic Encephalopathy", Volume 11 Issue 10, October 2022, International Journal of Science and Research (IJSR), Pages: 1117-1118, https://www.ijsr.net/getabstract.php?paperid=MR221023125656, DOI: https://dx.doi.org/10.21275/MR221023125656