Living with Gamma-glutamylcysteine synthetase deficiency
A rare inherited condition mainly causing mild anemia from red blood cell breakdown, and sometimes nerve and muscle symptoms.
Understanding Gamma-glutamylcysteine synthetase deficiency
In hemolytic anemia, red blood cells break down faster than the body can replace them. Some people also have neurological symptoms. It is usually noticed in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hemolytic anemia (red blood cells break down early)
- Muscle disease (myopathy)
- Nerve damage in the arms and legs (peripheral neuropathy)
- Degeneration of nerve pathways in the spinal cord
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 and genetic specialists.
- 3Consider genetic testing
Changes in GCLC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); 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 rare disease patient organizations for support
- 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 in the GCLC gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: anemia, congenital, nonspherocytic hemolytic, 7; cnsha7; gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to; gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to; glutamate-cysteine ligase deficiency; hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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Perspectives from people navigating life with Gamma-glutamylcysteine synthetase deficiency.
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