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Informative Article | Paediatrics | India | Volume 11 Issue 10, October 2022
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