Beta
ManageSearchChatDiscover
8684

Tandem Mass Spectrometry in Patients with Drug Resistant Epilepsy

Article

Last updated: 03 Jan 2025

OverviewSimilar Items

Subjects

-

Tags

-

Abstract

Background: Inherited metabolic abnormality was a common influential factor in the pathogenesis of intractable epilepsy. Screening of inborn metabolic abnormality in children with intractable epilepsy should be conducted as early as possible, to achieve early treatment and improve their prognosis. Methods: Descriptive study was conducted in Outpatient Neurology Clinic ā€“Ain Shams University Pediatric Hospital. It included 30 (12 male and 18 female) patients with intractable epilepsy during the period from February 2017 to December 2017. All patients presented with drug resistant epilepsy.
subjected to full history talking , clinical examination and were investigated by serum lactate, serum ammonia, arterial blood gases, Extended Metabolic Screen using tandem mass spectrometry, urinary organic acids, fundus examination, EEG and neuroimaging. Results: Abnormal urinary organic acid analysis was present in 5 patients as follows: 3-hydroxyglutaric acid in one patient, increase lactic acid in three patients and 2-oxoglutaric in one patient. Plasma amino acid analysis results were alanine elevation in 4 patients, elevated C5-DC in one patient, abnormal co-carnitine in three patients, 2 of them had low concentration and one had high concentration, elevated glycine in two patients and phenylalanine elevation in only one .Conclusion: Inherited metabolic abnormality was a common influential factor in the pathogenesis of intractable epilepsy.

Keywords

Tandem mass spectrometry, intractable epilepsy

Authors

First Name

Osama Nour Alden 1, Rania Hamed Shatla1,

Last Name

Esraa Elsayed Ragab2

MiddleName

-

Affiliation

1Pediatric Neurology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt 2 Mansheit Abakry Hospital, Cairo, Egypt

Email

esraaelsayed167@yahoo.com

City

-

Orcid

-

Volume

71

Article Issue

3

Related Issue

1663

Issue Date

2018-04-01

Receive Date

2018-03-09

Publish Date

2018-04-01

Page Start

2,712

Page End

2,714

Print ISSN

1687-2002

Online ISSN

2090-7125

Article File

EJHM_Volume 71_Issue 3_Pages 2712-2714.pdf

PDF . 196.7kB

Link

https://ejhm.journals.ekb.eg/article_8684.html

Detail API

https://ejhm.journals.ekb.eg/service?article_code=8684

Order

12

Type

Original Article

Type Code

606

Publication Type

Journal

Publication Title

The Egyptian Journal of Hospital Medicine

Publication Link

https://ejhm.journals.ekb.eg/

MainTitle

Tandem Mass Spectrometry in Patients with Drug Resistant Epilepsy

Details

Type

Article

Created At

22 Jan 2023