Scientists probe liver energy problems in rare citrin deficiency

NCT ID NCT07055269

First seen Oct 31, 2025 · Last updated Apr 29, 2026 · Updated 25 times

Summary

This study looks at how the liver processes energy and removes ammonia in people with citrin deficiency, a rare genetic disorder. Researchers will give special labeled substances (stable isotopes) to 20 adults—some with the condition and some healthy—to track liver activity. The goal is to better understand the disease, not to test a treatment.

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Contacts and locations

Locations

  • University Children's Hospital Zurich

    Zurich, 8008, Switzerland

Conditions

Explore the condition pages connected to this study.