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Maple Syrup urine disease (MSUD) is a rare inborn error of metabolism of branched chain amino acids which may present in the newborn period with poor feeding, seizures, altered sensorium and death. We describe rare case of MSUD in a set of monozygotic twins with possible pyruvate E3 complex deficiency.
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Author(s): Rojo Joy Prasad Kumar Femitha P Bahubali D Gane Adhisivam B Vishnu Bhat B
Maple syrup urine disease, Encephalopathy, Metabolic acidosis, Ketonuria, Lactic acidosis, Newborn