Maple Syrup Urine Disease (MSUD)

  • Aamir shah
  • Shumyla Jabeen
  • Omair Ashraf Shah Sheri kashmir institute of medical sciences
  • Feroze Shaheen
  • Tariq Gojwari
DOI: https://doi.org/10.33883/jms.v25i2.1189
Keywords: Maple Syrup Urine Disease, Magnetic Resonance Imaging, Tandem Mass Spectroscopy

Abstract

A 2 month old male infant presented with poor feeding, vomiting, poor weight gain, and increasing lethargy after birth. Laboratory testing revealed metabolic acidosis. The serum tandem mass spectrometry amino acid profile showed elevated plasma levels of BCAAs (leucine, isoleucine, and valine). MRI showed restricted diffusion involving the corticospinal tracts, internal capsule, thalami, globus palladi and brainstem.

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Published
2022-05-26
How to Cite
1.
shah A, Jabeen S, Shah O, Shaheen F, Gojwari T. Maple Syrup Urine Disease (MSUD). jms [Internet]. 2022May26 [cited 2026Oct.2];25(2):39. Available from: https://www.jmsskims.org/index.php/jms/article/view/1189
Issue
Vol 25 No 2 (2022): Apr-June
Section
Clinical Images
Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

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