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[L-2-hydroxyglutaric aciduria: report on two cases].

S Wagner1, C Vianey-Saban2, G-S Salomons3

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Summary
This summary is machine-generated.

L-2-hydroxyglutaric aciduria is a rare genetic neurometabolic disorder. Early detection via MRI and genetic testing, followed by riboflavin treatment, can halt disease progression.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • L-2-hydroxyglutaric aciduria is a rare genetic neurometabolic disease presenting in childhood.
  • Symptoms include mental retardation, cerebellar ataxia, epilepsy, and macrocephaly in some cases.

Observation:

  • Two patients with L-2-hydroxyglutaric aciduria were examined.
  • Clinical presentation prompted cerebral MRI and urinary organic acid chromatography.
  • Genetic analysis confirmed the diagnosis in both cases.

Findings:

  • Distinct phenotype and specific MRI abnormalities (white matter, pallidum, dentate nuclei) suggest L-2-hydroxyglutaric aciduria.
  • Urinary analysis can indicate the condition, with genetic testing providing confirmation.
  • Specific treatment, including riboflavin, halted disease progression in the examined patients.

Implications:

  • Early detection through characteristic MRI findings and genetic testing is crucial.
  • Prompt initiation of treatment, such as riboflavin therapy, can prevent disease progression.
  • This case highlights the importance of genetic identification for effective management of L-2-hydroxyglutaric aciduria.