glutaminase deficiency
MONDO:0600001Mondo
Findings
No curated finding names glutaminase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0600001), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GLSHGNC:4331
- Definitive · ClinGen · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of