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

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.