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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.
Neurology
|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.
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.
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