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      • Homo sapiens
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      • Leukotriene metabolic pathway
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      • This pathway shows an overview of leukotrienes biosynthesis and metabolism. Leukotrienes are a group of biologically active lipid mediators who are derived pre-dominantly from arachidonic acid via the 5-lipoxygenase pathways. This pathway follow two routes, one include cysteinyl leukotrienes (LTC4, LTD4 and LTE4), the second starting at LTB4. This pathway is linked to five disorders, out of which three are caused by hereditary primary defects in one enzyme also know as Inherited Metabolic Disorders or IMDs/IEMs (disorders depicted in pink). The clinical presentation of LTC4 synthase deficiency includes muscular hypotonia, psychomotor retardation, microcephaly and failure to thrive. The other two defects, gamma-glutamyl transpeptidase deficiency (GGT1 protein, also know as Glutathionuria) and membrane-bound dipeptidase deficiency (DPEP1 protein, responsible for a wide range of dipeptides hydrolytic reactions), have been studied to a lesser degree. Two additional disorders can be linked to this pathway: an increased risk of ischemic stroke is linked to the 5-LOAP protein (PMID:15640973 and 14770184) and deafness (ABCC1 autosomical dominant disorder, found in one family, severe hearing loss as adult, the relationship between the phenotype and gene is provisional). This pathway was inspired by Chapter 38 of the book of Blau (ISBN 3642403360 (978-3642403361)).
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