Publication Date
10-1-2024
Journal
Pediatric Neurology
DOI
10.1016/j.pediatrneurol.2024.06.013
PMID
39121557
PMCID
PMC11381174
PubMedCentral® Posted Date
10-1-2025
PubMedCentral® Full Text Version
Author MSS
Abstract
Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises. In addition, we sought to correlate the utility of biochemical markers and electroencephalography (EEG) in detecting subclinical seizures during HA.
Methods: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children's National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently.
Results: Eighty-five individuals with UCD were included in the analyses. Fifty-six of the 85 patients (66%) experienced HA crises, with a total of 163 HA events. Seizures are observed in 13% of HA events. Among all HA events with concomitant EEG, subclinical seizures were identified in 27% of crises of encephalopathy without clinical seizures and 53% of crises with clinical seizures. The odds of seizures increases 2.65 (95% confidence interval [CI], 1.51 to 4.66) times for every 100 μmol/L increase in ammonia and 1.14 (95% CI, 1.04 to 1.25) times for every 100 μmol/L increase in glutamine.
Conclusions: This study highlights the utility of EEG monitoring during crises for patients presenting with clinical seizures or encephalopathy with HA. During HA events, measurement of initial ammonia and glutamine can help determine risk for seizures and guide EEG monitoring decisions.
Keywords
Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Ammonia, Electroencephalography, Hyperammonemia, Longitudinal Studies, Retrospective Studies, Seizures, Urea Cycle Disorders, Inborn, Urea cycle disorders, UCD, seizure, subclinical seizure, hyperammonemic crisis, ammonia, glutamine, EEG, epilepsy
Published Open-Access
yes
Recommended Citation
Chanvanichtrakool, Mongkol; Schreiber, John M; Chen, Wei-Liang; et al., "Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises" (2024). Faculty and Staff Publications. 4391.
https://digitalcommons.library.tmc.edu/baylor_docs/4391