Pilot Study of At Home Ammonia Monitoring in Patients With an Inborn Error of Ammonia Metabolism
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.
• 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-homocitrullinuria
⁃ Carnitine-acylcarnitine translocase deficiency
⁃ Carbonic anhydrase VA deficiency
⁃ N-acetyl glutamate synthetase deficiency
• English Literacy