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Defective GCLC causes HAGGSD
Stable Identifier
R-HSA-5578999
Type
Pathway
Species
Homo sapiens
Synonyms
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective GCLC causes HAGGSD (Homo sapiens)
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In mammalian cells, many antioxidant defence systems exist which protect cells from subsequent exposure to oxidant stresses. One antioxidant is glutathione (GSH), a tripeptide present in virtually all cells that regulates the intracellular redox state and protects cells from oxidative injury. It is metabolised via the gamma-glutamyl cycle, which is catalysed by six enzymes. In man, hereditary deficiencies have been found in five of the six enzymes. Gamma-glutamylcysteine ligase (GCL) catalyses the first and rate-limiting step in GSH biosynthesis. GCL is a heterodimer of a catalytic heavy chain (GCLC) and a regulatory light chain (GCLM). Defects in the catalytic GCLC can cause hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD; MIM:230450), a disease characterised by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy (Ristoff & Larsson 2007, Aoyama & Nakaki 2013).
Literature References
PubMed ID
Title
Journal
Year
24145751
Impaired glutathione synthesis in neurodegeneration
Nakaki, T
,
Aoyama, K
Int J Mol Sci
2013
17397529
Inborn errors in the metabolism of glutathione
Larsson, A
,
Ristoff, E
Orphanet J Rare Dis
2007
Participants
Events
Defective GCLC does not ligate L-Glu to L-Cys
(Homo sapiens)
Participates
as an event of
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Disease
Name
Identifier
Synonyms
hemolytic anemia
DOID:583
Hemolytic anemias (disorder), Hemolytic anemia (disorder), Hemolytic anemias NOS (disorder), hemolytic anemia, ANEMIA HEMOLYTIC
Authored
Jassal, B (2014-06-06)
Reviewed
Nakaki, T (2014-11-03)
Created
Jassal, B (2014-06-06)
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