Pilot Study of At Home Ammonia Monitoring in Patients With an Inborn Error of Ammonia Metabolism
Sequitur Health Corp.
Summary
The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home. The main question it aims to answer is: • Will participants measure their ammonia every day? Participants will be asked to: * Attend two in-person study visits at the clinic. * Measure temperature, heart rate, and blood oxygen every day. * Complete a short survey every day. * Measure ammonia every day.
Description
Ammonium (NH4+, ion in aqueous solution) exists in equilibrium with ammonia (NH3, gas) according to the equilibrium reaction: NH3+ + H+ ↔ NH4+, which has a pKa of 9.25.\[1\] Total ammonia is the sum of all ammonium ions (NH4+) and ammonia gas (NH3) present. At the physiologically relevant pH of blood (\~7.4), the ammonium/ammonia equilibrium is almost completely shifted to NH4+.\[2\] Total ammonia is colloquially referred to as ammonia in clinical medicine and clinical chemistry. Thus, the term ammonia in this document refers to total ammonia unless otherwise specified. Ongoing metabolic proc…
Eligibility
- Age range
- 12+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Confirmed ammonia disorder such as * Ornithine transcarbamylase deficiency * Systemic primary carnitine deficiency * Type I citrullinemia * Argininosuccinic aciduria * Isolated methylmalonic acidemia * Type II citrullinemia * Propionic acidemia * Isovaleric acidemia * Multiple acyl-CoA dehydrogenase deficiency * Pyruvate carboxylase deficiency * Argininemia (arginase deficiency) * Carbamoyl phosphate synthase I deficiency * Dihydrolipoamide dehydrogenase deficiency * Lysinuric protein intolerance * Hyperornithinemia-hyperammonemia-homocitru…
Interventions
- Diagnostic TestAmmonia Study Device
Ammonia study device for capillary ammonia measurement
Location
- Oregon Health & Science UniversityPortland, Oregon