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Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene.
No clinical trials have been registered for glutaminase deficiency.
11 publications have been identified in PubMed for glutaminase deficiency. Research spans Basic Science / Preclinical (55%), Other (18%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 | 55% |
Other research | 2 | 18% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 11:08 AM UTC
Research summaries | 1 | 9% |
Patient case studies | 1 | 9% |
Disease patterns and progression | 1 | 9% |
Terashita S (2026). [PMID: 41308438](https://pubmed.ncbi.nlm.nih.gov/41308438/). *Biochemical and biophysical research communications*. [Basic Science / Preclinical]
Dong M (2026). [PMID: 41799529](https://pubmed.ncbi.nlm.nih.gov/41799529/). *Oncology research*. [Case Report / Case Series]
van Kuilenburg ABP (2026). [PMID: 41945067](https://pubmed.ncbi.nlm.nih.gov/41945067/). *Mol Genet Metab*. [Other]
van Kuilenburg ABP (2026). [PMID: 41865506](https://pubmed.ncbi.nlm.nih.gov/41865506/). *Mol Genet Metab*. [Review / Meta-Analysis]
van Kuilenburg ABP (2026). [PMID: 42259018](https://pubmed.ncbi.nlm.nih.gov/42259018/). *Mol Genet Metab*. [Other]
Lei L (2025). [PMID: 39699045](https://pubmed.ncbi.nlm.nih.gov/39699045/). *Movement disorders : official journal of the Movement Disorder Society*. [Epidemiology / Natural History]
Wang J (2025). [PMID: 39996573](https://pubmed.ncbi.nlm.nih.gov/39996573/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Basic Science / Preclinical]
Goswami MT (2025). [PMID: 38586045](https://pubmed.ncbi.nlm.nih.gov/38586045/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Hayward B (2024). [PMID: 38260514](https://pubmed.ncbi.nlm.nih.gov/38260514/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Hayward B (2024). [PMID: 38877099](https://pubmed.ncbi.nlm.nih.gov/38877099/). *Scientific reports*. [Basic Science / Preclinical]