Kennedy Krieger Institute

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Sulfite Oxidase and Molybedenum Cofactor Difficiency: Novel Paradigms of Excitotoxity


Arnold J. Capute, MD, MPH, Conference Center , Side A
The Harry and Jeanette Weinberg Building at 1741 Ashland Avenue, Baltimore, MD 21205

*This event is for Faculty and Staff*

Dr. Albert L. Misko, MD, PhD will be lecturing on Isolated sulfite oxidase deficiency (ISOD) and molybdenum cofactor deficiency (MoCD) are identical neurodegenerative disorders which closely mimic neonatal hypoxic ischemic encephalopathy (HIE). This similarity suggests a common pathophysiology and raises the possibility that ISOD and MoCD could serve as genetic models of neonatal HIE. To further qualify this potential, we analyzed brain MRIs from a cohort of ISOD and MoCD patients and found that the evolution of radiographic abnormalities is consistent with catastrophic energy failure and excitotoxicity. We further identified a common pathomechanism that converges at NMDA receptor activation and mitochondrial calcium overload. Our results suggest that ISOD and MoCD offer a novel paradigm to study excitotoxicity in the neonatal brain and test neuroprotective agents.

Friday, September 13 at 11:30am to 1:00pm

Event Type

Meetings & Conferences

Target Audience

Medical & Clinical Professionals, Faculty & Medical Staff

Tags

Faculty & staff

Website

https://www.eventbrite.com/e/guest-le...

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