Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology

Elizabeth Mary Mathew; Sudheer Moorkoth; Leslie Lewis; Pragna Rao

doi:10.4155/bio-2019-0121

Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology

Elizabeth Mary Mathew, Sudheer Moorkoth, Leslie Lewis, Pragna Rao

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Aim: Certain rare inborn errors of metabolism clinically present with intractable seizures that readily respond to vitamin therapy. If identified early, brain damage due to seizures can be prevented. Methodology: A LC-MS method was developed and validated for the simultaneous quantification of the biomarkers in selected vitamin responsive pediatric seizures from dried blood spots. Results: Application of the validated method to a seizure cohort of 46 patients indicated strong agreement of the method for clinical validity. Reference intervals for these biomarkers in dried blood spots were also determined for the population, after screening 956 neonates. Conclusion: The developed method was seen to be sensitive, linear, accurate and precise for testing vitamin responsive pediatric seizures.

Original language	English
Pages (from-to)	111-124
Number of pages	14
Journal	Bioanalysis
Volume	12
Issue number	2
DOIs	https://doi.org/10.4155/bio-2019-0121
Publication status	Published - 01-01-2020

All Science Journal Classification (ASJC) codes

Analytical Chemistry
Pharmacology, Toxicology and Pharmaceutics(all)
Clinical Biochemistry
Medical Laboratory Technology

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title = "Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology",

abstract = "Aim: Certain rare inborn errors of metabolism clinically present with intractable seizures that readily respond to vitamin therapy. If identified early, brain damage due to seizures can be prevented. Methodology: A LC-MS method was developed and validated for the simultaneous quantification of the biomarkers in selected vitamin responsive pediatric seizures from dried blood spots. Results: Application of the validated method to a seizure cohort of 46 patients indicated strong agreement of the method for clinical validity. Reference intervals for these biomarkers in dried blood spots were also determined for the population, after screening 956 neonates. Conclusion: The developed method was seen to be sensitive, linear, accurate and precise for testing vitamin responsive pediatric seizures.",

author = "Mathew, {Elizabeth Mary} and Sudheer Moorkoth and Leslie Lewis and Pragna Rao",

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doi = "10.4155/bio-2019-0121",

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T2 - a potential tool to detect pediatric seizures of unknown aetiology

AU - Mathew, Elizabeth Mary

AU - Moorkoth, Sudheer

AU - Lewis, Leslie

AU - Rao, Pragna

PY - 2020/1/1

Y1 - 2020/1/1

N2 - Aim: Certain rare inborn errors of metabolism clinically present with intractable seizures that readily respond to vitamin therapy. If identified early, brain damage due to seizures can be prevented. Methodology: A LC-MS method was developed and validated for the simultaneous quantification of the biomarkers in selected vitamin responsive pediatric seizures from dried blood spots. Results: Application of the validated method to a seizure cohort of 46 patients indicated strong agreement of the method for clinical validity. Reference intervals for these biomarkers in dried blood spots were also determined for the population, after screening 956 neonates. Conclusion: The developed method was seen to be sensitive, linear, accurate and precise for testing vitamin responsive pediatric seizures.

AB - Aim: Certain rare inborn errors of metabolism clinically present with intractable seizures that readily respond to vitamin therapy. If identified early, brain damage due to seizures can be prevented. Methodology: A LC-MS method was developed and validated for the simultaneous quantification of the biomarkers in selected vitamin responsive pediatric seizures from dried blood spots. Results: Application of the validated method to a seizure cohort of 46 patients indicated strong agreement of the method for clinical validity. Reference intervals for these biomarkers in dried blood spots were also determined for the population, after screening 956 neonates. Conclusion: The developed method was seen to be sensitive, linear, accurate and precise for testing vitamin responsive pediatric seizures.

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Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology

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