Biomarkers of Brain Injury in Children with Hyperammonemia and Related Metabolic Disorders

What this Trial Is About

This research investigates brain injury biomarkers in patients with inherited hyperammonemic disorders and other metabolic conditions. High ammonia levels in the blood can harm the brain, causing swelling, blood vessel problems, intellectual disabilities, and in severe cases, coma or death. The study aims to understand the timing of brain injury markers during hyperammonemic episodes and to explore these markers in other metabolic diseases like Maple Syrup Urine Disease and Glutaric Acidemia. Participants include those diagnosed with specific urea cycle disorders, organic acidemias, fatty acid oxidation disorders, or hypoxic-ischemic encephalopathy. The study involves collecting and analyzing blood samples for biomarkers S100B, NSE, and UCHL1 during hospital stays and outpatient visits. These measurements will track biomarker changes alongside blood ammonia levels and neurological status. Patients will be enrolled during hospitalizations or preferably at outpatient visits, where leftover blood samples from routine tests are used. Biomarker levels will be measured sequentially during hospital stays until ammonia and mental status normalize, and again at follow-up outpatient visits to assess recovery. Researchers will monitor biomarker patterns over up to two years to better understand brain injury progression and recovery in these conditions.

Systemic Biomarkers of Brain Injury From Hyperammonemia