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D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for D-2-hydroxyglutaric aciduria.
16 publications have been identified in PubMed for D-2-hydroxyglutaric aciduria. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 9 | 56% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about D-2-hydroxyglutaric aciduria
3 |
19% |
Research summaries | 2 | 13% |
Disease patterns and progression | 1 | 6% |
New treatment approaches | 1 | 6% |
Marcuzzo MB (2026). [PMID: 41831085](https://pubmed.ncbi.nlm.nih.gov/41831085/). *Neurochem Res*. [Review / Meta-Analysis]
Lipiński P (2026). [PMID: 40380983](https://pubmed.ncbi.nlm.nih.gov/40380983/). *J Appl Genet*. [Review / Meta-Analysis]
Guo Q (2025). [PMID: 40870031](https://pubmed.ncbi.nlm.nih.gov/40870031/). *Genes*. [Case Report / Case Series]
Shimozato M (2025). [PMID: 39880652](https://pubmed.ncbi.nlm.nih.gov/39880652/). *Rinsho shinkeigaku = Clinical neurology*. [Case Report / Case Series]
Rai M (2025). [PMID: 40489577](https://pubmed.ncbi.nlm.nih.gov/40489577/). *G3 (Bethesda, Md.)*. [Basic Science / Preclinical]
Roux J (2025). [PMID: 39839460](https://pubmed.ncbi.nlm.nih.gov/39839460/). *JAAD case reports*. [Case Report / Case Series]
Ribeiro RT (2025). [PMID: 39647572](https://pubmed.ncbi.nlm.nih.gov/39647572/). *European journal of pharmacology*. [Basic Science / Preclinical]
Engin Erdal A (2025). [PMID: 40660807](https://pubmed.ncbi.nlm.nih.gov/40660807/). *Journal of pediatric endocrinology & metabolism : JPEM*. [Case Report / Case Series]
Gold JI (2024). [PMID: 38736636](https://pubmed.ncbi.nlm.nih.gov/38736636/). *JIMD reports*. [Case Report / Case Series]
Phua YL (2024). [PMID: 38772223](https://pubmed.ncbi.nlm.nih.gov/38772223/). *Molecular genetics and metabolism*. [Epidemiology / Natural History]