Gamma-glutamylcysteine synthetase deficiency
- Synonyms
- Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Reticulocytosis
Reticulocytosis
- MedGen UID: 60089
- Concept ID: C0206160
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reticulocytosis
- Abnormality of metabolism/homeostasis
- Increased circulating lactate dehydrogenase concentration
Increased circulating lactate dehydrogenase concentration
- MedGen UID: 1377250
- Concept ID: C4477095
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced erythrocyte gamma-glutamyl cysteine synthetase activity
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity
- MedGen UID: 1052439
- Concept ID: CN376641
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate dehydrogenase concentration
- Abnormality of the nervous system
- Late-onset spinocerebellar degeneration
Late-onset spinocerebellar degeneration
- MedGen UID: 347273
- Concept ID: C1856604
- Finding: Finding
Abnormality of the nervous system
- Late-onset spinocerebellar degeneration
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