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L-2 hydroxyglutaric aciduria presenting with anxiety symptoms
Cem Gökçen1, Sedat Isikay, Kutluhan Yilmaz
1Department of Child and Adolescent Psychiatry, Gaziantep University, Gaziantep, Turkey.
BMJ Case Reports
|June 11, 2013
Summary
L-2 hydroxyglutaric aciduria, a rare metabolic disorder, can present with psychiatric symptoms like anxiety. Early diagnosis involves detecting increased L-2 hydroxyglutaric acid levels and characteristic MRI findings.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- L-2 hydroxyglutaric aciduria is a rare autosomal recessive metabolic disorder.
- It affects organic acid metabolism and presents with progressive neurological decline.
Observation:
- A 13-year-old patient exhibited tremors and anxiety.
- Neurological examination revealed cerebellar and pyramidal signs.
Findings:
- Diagnosis confirmed by elevated L-2 hydroxyglutaric acid in bodily fluids.
- Brain MRI showed white matter abnormalities and basal ganglia/dentate nuclei signal changes.
Implications:
- Highlights the link between metabolic disorders and psychiatric manifestations.
- Emphasizes the importance of considering metabolic evaluations in pediatric neurology.
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