Management of Maple Syrup Urine Disease Complicated by Severe GERD and Sepsis in an Infant: A CARE-Compliant Case Report

Abstract

: Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder that can be further complicated by conditions such as gastroesophageal reflux disease (GERD) and sepsis, leading to metabolic instability. A 2-month-18-day-old male infant with known MSUD presented with recurrent vomiting, poor feeding, lethargy, and fever, with a prior history of neonatal metabolic encephalopathy. Clinical evaluation revealed tachycardia, reduced activity, and feeding intolerance. Laboratory findings indicated anemia, sepsis, and elevated leucine levels, while culture identified Citrobacter freundii . Imaging studies and liver biopsy were normal. The patient was managed with intravenous antibiotics, antiepileptic therapy using Levetiracetam, proton pump inhibitors, and specialized metabolic nutrition. Due to persistent GERD, transpyloric feeding followed by surgical fundoplication was performed. The infant showed gradual improvement with stabilization of metabolic parameters, improved feeding tolerance, and weight gain. Early multidisciplinary management is essential to improve outcomes in such complex cases.