Successful Treatment of 2-hydroxyglutaric Aciduria Diagnosed in Adulthood, Three Decades After the Onset: A Case Report and Literature Review

2-Hydroxyglutaric aciduria is a rare genetic metabolic disorder, especially in Japan. Although magnetic resonance images show characteristic abnormalities in the subcortical white matter, some cases have been diagnosed in adulthood, namely many decades after onset. We herein report the case of a bedridden 37-year-old 2-hydroxyglutaric aciduria male patient who was diagnosed three decades after onset. Despite this, combination treatment with riboflavin and levocarnitine improved his condition, thus allowing him to walk by himself. Considering our case and the previous literature, we emphasize the importance of correctly diagnosing and treating patients with 2-hydroxyglutaric aciduria.