Gamma-glutamylcysteine synthetase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Glutamate-cysteine ligase deficiency |
| Number of Symptoms | 11 |
| OrphanetNr: | 33574 |
| OMIM Id: |
230450
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| ICD-10: |
D55.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 9 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of the gamma-glutamyl cycle
-Rare genetic disease Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0009830) | Peripheral neuropathy | 206 / 7739 | ||||
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(HPO:0001271) | Polyneuropathy | 56 / 7739 | ||||
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 7739 | ||||
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(OMIM) | Gamma-glutamylcysteine deficiency | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency | 1 / 7739 | ||||
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(HPO:0006904) | Late-onset spinocerebellar degeneration | 1 / 7739 | ||||
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(OMIM) | Glutathione deficiency | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Gamma-glutamylcysteine synthetase deficiency is 1 of 4 diseases involving enzymes in the gamma-glutamyl cycle (Meister, 1974). The other 3 disorders are glutathione synthetase deficiency (231900), 5-oxoprolinuria, which is a severe or generalized form of glutathione synthetase deficiency (266130), ... |
| Clinical Description OMIM |
Konrad et al. (1972) described a brother and sister of German descent with hemolytic anemia due to deficiency of the first enzyme of glutathione synthesis, gamma-glutamylcysteine synthetase. There was no known consanguinity in the family. Obligatory heterozygotes had ... |
| Molecular genetics OMIM | Beutler et al. (1999) determined the partial genomic structure of the catalytic subunit of GCLC. They identified a his370-to-leu mutation (606857.0001) in the GCLC gene in a patient with hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency. |