New metabolomic test could revolutionize diagnosis of rare metabolic disorders
NCT ID NCT04201067
First seen Nov 01, 2025 · Last updated May 12, 2026 · Updated 23 times
Summary
This study tested a new way to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers used a technique called global metabolomic profiling to analyze blood and urine samples from 240 participants. The goal was to see if this method works better than traditional testing for finding these conditions.
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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Locations
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Mayo Clinic in Rochester
Rochester, Minnesota, 55905, United States
Conditions
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