Disease

Homocystinuria

About the Disease
Homocystinuria, also known as cystathionine beta synthase deficiency, is related to homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity and methylmalonic aciduria and homocystinuria, cblf type, and has symptoms including seizures An important gene associated with Homocystinuria is CBS (Cystathionine Beta-Synthase), and among its related pathways/superpathways are Disease and Metabolism. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and kidney, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

Common Targets
CBS | MTHFR

疾病靶点研报
Homocystinuria

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