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2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
Biomarker and diagnostic research for 2-hydroxyglutaric aciduria has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.
25 publications have been identified in PubMed for 2-hydroxyglutaric aciduria. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (40%), and Diagnostic / Biomarker (4%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 44% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:26 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
10 |
40% |
Testing and diagnosis research | 1 | 4% |
Research summaries | 1 | 4% |
Disease patterns and progression | 1 | 4% |
New treatment approaches | 1 | 4% |
Chakrabarty RP (2026). [PMID: 42162436](https://pubmed.ncbi.nlm.nih.gov/42162436/). *Nature*. [Basic Science / Preclinical]
Bıyık MO (2026). [PMID: 41936723](https://pubmed.ncbi.nlm.nih.gov/41936723/). *Neurol Sci*. [Review / Meta-Analysis]
Finsterer J (2026). [PMID: 42205672](https://pubmed.ncbi.nlm.nih.gov/42205672/). *Cureus*. [Case Report / Case Series]
Kasprzyk-Pawelec A (2025). [PMID: 39733217](https://pubmed.ncbi.nlm.nih.gov/39733217/). *Cell death and differentiation*. [Basic Science / Preclinical]
Lipiński P (2025). [PMID: 40380983](https://pubmed.ncbi.nlm.nih.gov/40380983/). *Journal of applied genetics*. [Epidemiology / Natural History]
Engin Erdal A (2025). [PMID: 40660807](https://pubmed.ncbi.nlm.nih.gov/40660807/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]
Guo Q (2025). [PMID: 40870031](https://pubmed.ncbi.nlm.nih.gov/40870031/). *Genes*. [Basic Science / Preclinical]
Roux J (2025). [PMID: 39839460](https://pubmed.ncbi.nlm.nih.gov/39839460/). *JAAD case reports*. [Case Report / Case Series]
Shimozato M (2025). [PMID: 39880652](https://pubmed.ncbi.nlm.nih.gov/39880652/). *Rinsho shinkeigaku = Clinical neurology*. [Case Report / Case Series]
Ribeiro RT (2025). [PMID: 39647572](https://pubmed.ncbi.nlm.nih.gov/39647572/). *European journal of pharmacology*. [Case Report / Case Series]
AI-curated news mentioning 2-hydroxyglutaric aciduria
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.