Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.

Autor: Chanvanichtrakool M; Faculty of Medicine Siriraj Hospital, Division of Neurology, Department of Pediatrics, Mahidol University, Bangkok, Thailand; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia., Schreiber JM; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia., Chen WL; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia., Barber J; Division of Biostatistics and Study Methodology, Children's National Medical Center, Washington, District of Columbia., Zhang A; Division of Biostatistics and Study Methodology, Children's National Medical Center, Washington, District of Columbia., Ah Mew N; Division of Genetics & Metabolism, Children's National Hospital, Washington, District of Columbia., Schulze A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada; Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Canada., Wilkening G; Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Aurora, Colorado., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas., Gropman A; Division of Neurogenetics & Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Medical Center, Washington, District of Columbia. Electronic address: agropman@childrensnational.org.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2024 Oct; Vol. 159, pp. 48-55. Date of Electronic Publication: 2024 Jun 29.
DOI: 10.1016/j.pediatrneurol.2024.06.013
Abstrakt: 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.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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