Case Report on Maple Syrup Urine Disease (MSUD)

Randeep Raj Christina; Swathi Kalepu; Pydi Venkata Satya Sai Prasanth Rallapalli

Randeep Raj Christina Assistant Professor, Department of Pharmacy Practice, Avanthi Institute of Pharmaceutical Sciences,
Kalepu Swathi Assistant Professor, Department of Pharmaceutical chemistry, Bojjam Narsimhulu College of Pharmacy for women
Rallapalli Pydi Venkata Satya Sai Prasanth Avanthi Institute of Pharmaceutical Sciences,

Abstract

This case report presents the clinical journey of a 3-month-old male infant diagnosed with Maple Syrup Urine Disease (MSUD). The infant exhibited classic symptoms of MSUD, including poor feeding, irritability, and episodes of altered consciousness. Laboratory tests revealed elevated levels of branched-chain amino acids and ketoacids, confirming the diagnosis. Genetic testing identified mutations in the BCKDHA gene, solidifying the diagnosis of MSUD. Immediate management involved dietary restrictions targeting branched-chain amino acids, leading to symptomatic improvement. Long-term care emphasized the necessity of continuous dietary modifications and vigilant monitoring to prevent metabolic decompensation and neurological sequelae. This case underscores the significance of early detection through newborn screening and highlights the pivotal role of dietary management in mitigating MSUD-related complications. Emphasizing the importance of multidisciplinary care, this report contributes to the understanding of MSUD management and emphasizes the need for ongoing surveillance and compliance for optimal outcomes.

Keywords: Maple Syrup Urine Disease, MSUD, newborn screening, branched-chain amino acids, metabolic disorder, genetic testing, dietary management, neurological complications, case report, infant care.

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