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inherited glutathione synthetase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inherited glutathione synthetase deficiency

MONDO:0017909

Also known as:5-oxoprolinuriaGSSDglutathione synthetase deficiency

Find Clinical TrialsTrials

Overview

Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Nervous system problems (abnormality of the nervous system), Red blood cell destruction (hemolytic anemia), Chronic metabolic acidosis, and Reduced glutathione synthetase level and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Nervous system problems (abnormality of the nervous system)

Diagnosis

Biomarker and diagnostic research for inherited glutathione synthetase deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for inherited glutathione synthetase deficiency. Research spans Case Report / Case Series (55%), Gene Therapy / Novel Therapeutics (18%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Patient case studies	6	55%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:32

GARD

Genetic and Rare Diseases Info Center

GARD:10047

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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inherited glutathione synthetase deficiency

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

inherited glutathione synthetase deficiency

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications