From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

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Ozbek E. D., Nezerli J., AKAR H. T., Yilmaz D. Y., DURSUN A., GÖÇMEN R., ...Daha Fazla

ARCHIVES OF EPILEPSY, sa.2, ss.53-55, 2024 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2024
  • Doi Numarası: 10.4274/archepilepsy.2024.24114
  • Dergi Adı: ARCHIVES OF EPILEPSY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.53-55
  • Hacettepe Üniversitesi Adresli: Evet

Özet

L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive metabolic disorder that causes central nervous system dysfunction. We present the case of a 33-year-old woman with macrocephaly, developmental delay, cerebellar ataxia, pyramidal signs, and seizures. Despite typical clinical features and suggestive magnetic resonance imaging findings, the diagnosis was not made. Genetic analysis revealed a homozygous missense mutation in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Treatment with riboflavin and L-carnitine was initiated. L2HGA should be considered in the differential diagnosis, even in adults, when suggestive imaging findings are present. Early diagnosis is crucial for better outcomes.