Living with Inherited glutathione synthetase deficiency
A genetic metabolic condition in which the body can't make enough glutathione, with effects on blood, immunity, and the brain.
Understanding Inherited glutathione synthetase deficiency
People don't have enough of the enzyme glutathione synthetase. The condition can be mild, moderate, or severe. It can begin in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia from red blood cells breaking down (hemolytic anemia)
- Yellow skin and eyes (jaundice)
- Too much acid in the body (metabolic acidosis)
- Frequent infections
- Feeding difficulties in infancy
- Seizures, intellectual disability, and poor coordination (ataxia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes (pathogenic variants) in the GSS gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: 5-oxoprolinuria; glutathione synthetase deficiency; gssd; inborn error of glutathione synthase activity; inborn glutathione synthase activity disorder; pyroglutamic aciduria
Patient organizations
- Organic Acidemia AssociationInherited glutathione synthetase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Inherited glutathione synthetase deficiency.
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