P010: At-home ammonia breath test for monitoring patients with a urea cycle disorder

Read full text
Authors: Matthew Leming, Robert de Latour
Cited by: 0

Abstract

Effective management of metabolic waste is critical for maintaining health, particularly for individuals with urea cycle disorders (UCD), a group of rare inherited metabolic conditions that impair the body’s ability to convert ammonia, a neurotoxic byproduct of protein metabolism, into urea for kidney excretion. Elevated ammonia levels, known as hyperammonemia, can lead to life-threatening neurological damage if not promptly identified and managed. Currently, detection of hyperammonemia in UCD patients relies on invasive blood draws and frequent clinical visits, a process that is inconvenient, costly, and often distressing for patients and families.

Fields of Study & Subjects

Metabolism and Genetic Disorders Amino Acid Enzymes and Metabolism Biochemical and Molecular Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103501–103501
Publication date
1 January 2026
Language
EN