Investigating how lysine breakdown is regulated in glutaric aciduria type 1.
Official title: Allosteric regulation of lysine degradation as a novel pathophysiological mechanism in glutaric aciduria type 1
Funded at Icahn School of Medicine at Mount Sinai · NIH-10922835 · Data updated 2026-11-12
This study is looking at how the body breaks down lysine and what goes wrong in people with glutaric aciduria type 1 (GA1), a rare genetic disorder, to find better treatments that could help improve brain health and overall well-being for those living with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 6, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $718,385 |
| NIH project number | 5R01HD112518-02 |
| Project ID | NIH-10922835 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with glutaric aciduria type 1, particularly those experiencing neurological symptoms.
✕Less likely to help
Patients with other metabolic disorders unrelated to lysine degradation may not benefit from this research.
What this research studies
This research focuses on understanding the allosteric mechanisms that control the breakdown of lysine, a process that is disrupted in glutaric aciduria type 1 (GA1), a rare genetic disorder. By studying both human patients and a mouse model of GA1, the researchers aim to uncover new insights into how the accumulation of toxic substances affects the brain and leads to neurological issues. The project seeks to improve current treatment strategies, which primarily rely on dietary management and supplementation, by exploring novel therapeutic approaches. This could ultimately lead to better outcomes for patients suffering from this condition.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for glutaric aciduria type 1, potentially reducing neurological complications and enhancing the quality of life for affected patients.
How similar studies have gone: While research into allosteric regulation is ongoing, this specific approach to understanding glutaric aciduria type 1 is relatively novel and has not been extensively tested.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Houten, Sander Michel — Icahn School of Medicine at Mount Sinai
- Study coordinator: Houten, Sander Michel
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.