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fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD)
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DOI：10.1016/j.ymgme.2026.110168.png)
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Abstract
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Maple syrup urine disease (MSUD) is a rare inherited disorder identified through newborn screening. Monitoring relies on using established biochemical biomarkers; however, neurodevelopmental outcomes remain variable despite metabolic control. Structural neuroimaging in MSUD has identified acute and chronic brain injury, but these approaches provide limited insight into functional brain physiology. Recent preclinical work by demonstrated altered resting-state functional connectivity in a mouse model of MSUD using functional near-infrared spectroscopy (fNIRS), suggesting that metabolic dysregulation directly impacts cortical function.
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