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Gamma-glutamylcysteine synthetase deficiency
rareA disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
- Identifiers
- MONDO:0009259 OMIM:230450Orphanet:33574
- Causal genes
- GCLC
- Part of
- Anemia due to enzyme disorderCongenital nonspherocytic hemolytic anemiaInherited glutathione metabolism disease
- Also known as
- anemia, congenital, nonspherocytic hemolytic, 7 · 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
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