Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed:
Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammonemic (HA) brain insult in patients with an inherited hyperammonemic disorder.
Aim 2 will be to determine if S100B, NSE, and UCHL1 are altered in patients with two other inborn errors of metabolism, Maple Syrup Urine Disease (MSUD) and Glutaric Acidemia (GA1).
N-acetylglutamate Synthetase Deficiency (NAGS)
Carbamyl Phosphate Synthetase Deficiency (CPSD)
Ornithine Transcarbamylase Deficiency (OTCD)
Argininosuccinate Synthetase Deficiency (ASD)
Prior Solid-Organ Transplant
Use of any other investigational drug, biologic, or therapy or any clinical or laboratory abnormality or medical condition that, as determined by the investigator, may interfere with or obscure the biomarker measurements
Children's National Research Institute
Lead sponsor
National Center for Advancing Translational Sciences (NCATS)
Collaborator