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Pathway Description
Leukotriene C4 Synthesis Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-10-17
Leukotriene C4 synthetase deficiency is caused by a defect in the enzyme leukotriene C4 synthetase (LTC4S). This enzyme catalyzes the synthesis of leukotriene C4 (LTC4) through conjugation of LTA4 with reduced glutathione (GSH), which is synthesized by glutathione synthetase. Leukotriene C4 and its receptor-binding metabolites LTD4 and LTE4 are cysteinyl leukotrienes that are potent lipid mediators of tissue inflammation. In general, leukotrienes are potent proinflammatory mediators synthesized from membrane-derived arachidonic acid after activation of certain granulocytes. A defect in LTC4 results in decreased concentrations of cysteinyl leukotrienes LTC4, LTD4 and LTE4 in plasma, spinal fluid and urine. Symptoms include early death, failure to thrive, motor retardation, microcephaly, and progressive neurological defect.
References
Leukotriene C4 Synthesis Deficiency References
[OMIM: Entry 246530](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=246530)
[Uniprot: Q16873](http://www.uniprot.org/uniprot/Q16873)
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Pubmed: 3654641
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Pubmed: 8052639
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