Traits

Traits linked to GSS

glutathione synthetase

The Human Phenotype Ontology links 15 traits to GSS, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Ataxia	Not recorded
Difficulty articulating speech	Not recorded
Epilepsy	Not recorded
Intention tremor	Not recorded
Psychotic mentation	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased level of L-pyroglutamic acid in urine	Always
Reduced glutathione synthetase level	Always
Metabolic acidosis	Often (30–79%)
Chronic metabolic acidosis	Not recorded
Glyoxalase deficiency	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hemolytic anemia	Always
Low blood neutrophil count	Not recorded

Abnormality of the eye

Trait	How often it is seen
Pigmentary retinopathy	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic tetraparesis	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GSS and how often each is seen. Find out more at hpo.jax.org.

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