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Related Experiment Video

Updated: Jul 16, 2026

Glutamine Flux Imaging Using Genetically Encoded Sensors

Glutamine Flux Imaging Using Genetically Encoded Sensors

Published on: July 31, 2014

Teaching NeuroImage: Glutaredoxin-5-Associated Variant Nonketotic Hyperglycinemia.

Sayoni Roy Chowdhury¹, Rekha Mittal¹, Richa Yadav¹

¹From the Departments of Pediatric Neurology (S.R.C., R.M.) and Radiodiagnosis (R.Y.), Madhukar Rainbow Children's Hospital, Delhi; and Department of Radiodiagnosis (V.G.), Delhi MRI Scan, India.

|January 4, 2024

Summary

A novel genetic mutation in the Glutaredoxin-5 (GLRX5) gene caused a rare leukoencephalopathy in a young boy. This condition led to severe motor regression and neurological deficits.

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Last Updated: Jul 16, 2026

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Area of Science:

Neurogenetics
Mitochondrial Biology
Neurodegenerative Diseases

Background:

Mitochondrial dysfunction is implicated in various neurological disorders.
Glutaredoxin-5 (GLRX5) plays a role in iron homeostasis and oxidative stress response.
Leukoencephalopathies are a group of white matter disorders affecting the brain.

Observation:

A 5-year-old boy presented with subacute motor regression, spasticity, generalized dystonia, and pseudobulbar palsy.
Elevated plasma lactate levels and neuroimaging revealed cavitating leukoencephalopathy affecting long tracts.
No sideroblastic anemia was detected, differentiating from other GLRX5-related conditions.

Findings:

A novel homozygous missense variant (c.171C > A, p.Phe57Leu) in the GLRX5 gene was identified via next-generation sequencing.
This genetic finding provides a molecular basis for the observed leukoencephalopathy.
The variant is located in exon 1 of the GLRX5 gene.

Implications:

This case expands the spectrum of GLRX5-associated disorders.
Understanding this novel variant's impact on GLRX5 function is crucial for potential therapeutic strategies.
Highlights the importance of genetic testing in diagnosing complex pediatric neurological conditions.