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Related Experiment Video

Updated: Jun 25, 2026

Preparation and Implantation of Electrodes for Electrically Kindling VGAT-Cre Mice to Generate a Model for Temporal Lobe Epilepsy

Preparation and Implantation of Electrodes for Electrically Kindling VGAT-Cre Mice to Generate a Model for Temporal Lobe Epilepsy

Published on: August 17, 2021

Glutaric aciduria type 1 presenting with epilepsy.

Verity M McClelland¹, Daniela B Bakalinova, Chris Hendriksz

¹Evelina Children's Hospital, Guy's and St Thomas' NHS Trust, London, UK. verity@betterley.co.uk

Developmental Medicine and Child Neurology

|March 6, 2009

Summary

This summary is machine-generated.

Glutaric aciduria type 1 (GA-1) can present solely with difficult-to-control epileptic seizures in children. Early metabolic investigation is crucial for diagnosis and effective treatment of this rare genetic disorder.

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Last Updated: Jun 25, 2026

Preparation and Implantation of Electrodes for Electrically Kindling VGAT-Cre Mice to Generate a Model for Temporal Lobe Epilepsy

Preparation and Implantation of Electrodes for Electrically Kindling VGAT-Cre Mice to Generate a Model for Temporal Lobe Epilepsy

Published on: August 17, 2021

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Published on: May 16, 2019

Area of Science:

Biochemistry
Genetics
Neurology

Background:

Glutaric aciduria type 1 (GA-1) is an inherited metabolic disorder caused by glutaryl-CoA dehydrogenase (GCDH) deficiency.
Typically presents in infancy with encephalopathy, dystonia-dyskinesia, macrocephaly, or subdural hematoma.

Observation:

A 6-year-old female presented with recurrent, refractory epileptic seizures without prior encephalopathy or developmental issues.
Electroencephalogram showed abnormal activity, and seizures worsened with valproic acid treatment.
Cranial MRI revealed widened Sylvian fissures.

Findings:

Metabolic investigations confirmed Glutaric aciduria type 1 (GA-1).
The patient improved with a low-protein diet, carnitine, levetiracetam, and lamotrigine.
This case represents the first report of epileptic seizures as the sole presenting feature of GA-1.

Implications:

Highlights the expanded clinical spectrum of GA-1, including epilepsy as an isolated symptom.
Underscores the importance of metabolic screening in cases of refractory epilepsy unresponsive to standard treatments.
Suggests a need for broader diagnostic considerations in pediatric epilepsy management.