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

Abstract

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.

Keywords

• epilepsy
• l2-hydroxyglutaric aciduria
• cranial mri
• genetic mutation