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Research Journal of Medical Sciences

ISSN: Online 1993-6095
ISSN: Print 1815-9346
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Maple Syrup Urine Disease in a 9‐Day‐Old Term Male Infant: A Case Report and Diagnostic Approach

Kanchi Lavanya, Harshitha Bunga, Sravya Sai Deepika Pandilla, Katkam Shravani and Vangapalli Gnana Deepika
Page: 334-339 | Received 20 Aug 2024, Published online: 21 Sep 2024

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https://doi.org/10.36478/10.36478/makrjms.2024.10.334.339

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Abstract

Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive disorder characterized by a deficiency in the branched‐chain a‐ketoacid dehydrogenase (BCKD) enzyme complex, leading to the accumulation of branched‐chain amino acids (BCAAs) and their toxic metabolites. Early onset and rapid progression of neurological symptoms, including irritability, poor feeding, seizures and encephalopathy, are hallmark features. We present a case of a 9‐day‐old term male infant born to a G5A3L1 mother via normal vaginal delivery. The infant exhibited excessive crying from day 3 of life, followed by seizures on day 7 and respiratory failure on day 11, necessitating mechanical ventilation. Diagnostic tests revealed elevated serum lactate, positive urine ketones, and branched‐chain ketoacids, confirming the diagnosis of MSUD. Acute management involved mechanical ventilation and aggressive metabolic control to reduce BCAA levels, including hemodialysis. Long‐term management strategies focused on dietary restriction of BCAAs using specialized formulas, regular monitoring of BCAA levels and genetic counseling for the family. This case highlights the importance of early diagnosis and aggressive management in MSUD to prevent rapid neurological deterioration. Newborn screening and genetic testing are essential in families with a history of metabolic disorders to improve clinical outcomes.

How to cite this article:

Kanchi Lavanya, Harshitha Bunga, Sravya Sai Deepika Pandilla, Katkam Shravani and Vangapalli Gnana Deepika. Maple Syrup Urine Disease in a 9‐Day‐Old Term Male Infant: A Case Report and Diagnostic Approach.
DOI: https://doi.org/10.36478/10.36478/makrjms.2024.10.334.339
URL: https://www.makhillpublications.co/view-article/1815-9346/10.36478/makrjms.2024.10.334.339