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