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[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene]
E V Saifullina1, E Yu Zakharova2, M V Kurkina2
1Bashkir State Medical University, Ufa, Russia.
Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
|June 16, 2017
Summary
L-2-hydroxyglutaric aciduria is a rare metabolic disorder causing neurological issues. Diagnosis involves characteristic MRI findings and genetic testing.
Area of Science:
- Biochemistry
- Genetics
- Neurology
- Metabolic Disorders
Background:
- L-2-hydroxyglutaric aciduria (MIM#236792) is a rare, autosomal recessive metabolic disorder.
- It stems from mutations in the L2HGDH gene, impacting L-2-hydroxyglutarate dehydrogenase activity.
- The condition predominantly manifests with neurological symptoms.
Observation:
- The case involves a 13-year-old girl presenting with predominantly neurological symptoms.
- Clinical manifestations included epilepsy, cerebellar ataxia, and cognitive impairment.
Findings:
- Magnetic resonance imaging (MRI) revealed distinctive multifocal white matter lesions.
- Biochemical and molecular genetic analyses confirmed the diagnosis of L-2-hydroxyglutaric aciduria.
Implications:
- This case highlights the characteristic neuroimaging findings in L-2-hydroxyglutaric aciduria.
- Early and accurate diagnosis is crucial for managing this rare metabolic disorder.
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