Peer-reviewedCC BY-NC-NDInternal Medicine
Successful Treatment of 2-Hydroxyglutaric Aciduria Diagnosed in Adulthood, Three Decades after the Onset: A Case Report and Literature Review
Abstract
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.
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BibTeX
@article{matsuzono2026successful,
title = {{Successful Treatment of 2-Hydroxyglutaric Aciduria Diagnosed in Adulthood, Three Decades after the Onset: A Case Report and Literature Review}},
author = {Kosuke Matsuzono and Reiji Koide and Shigeru Fujimoto},
journal = {Internal Medicine},
year = {2026},
month = aug,
doi = {10.2169/internalmedicine.6360-25},
url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/15/65_6360-25/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Successful Treatment of 2-Hydroxyglutaric Aciduria Diagnosed in Adulthood, Three Decades after the Onset: A Case Report and Literature Review
AU - Kosuke Matsuzono
AU - Reiji Koide
AU - Shigeru Fujimoto
PY - 2026
DA - 2026/08/01
JO - Internal Medicine
DO - 10.2169/internalmedicine.6360-25
UR - https://www.jstage.jst.go.jp/article/internalmedicine/65/15/65_6360-25/_article
AB - 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.
SN - 1349-7235
SN - 0918-2918
ER -