Hyperhomocysteinemia

About the Disease
Hyperhomocysteinemia is related to homocysteinemia and homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity. An important gene associated with Hyperhomocysteinemia is H19 (H19 Imprinted Maternally Expressed Transcript), and among its related pathways/superpathways are Metabolism and Response to elevated platelet cytosolic Ca2+. The drugs Amlodipine and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include endothelial, kidney and smooth muscle, and related phenotypes are Increased free cholesterol and homeostasis/metabolism

Common Targets
BHMT | MTHFR | CPS1 | AHCY | AKR1B1 | CBS

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