Disease

Pyruvate Kinase Deficiency

About the Disease
Pyruvate Kinase Deficiency of Red Cells, also known as pyruvate kinase deficiency, is related to neonatal jaundice and glucosephosphate dehydrogenase deficiency, and has symptoms including icterus An important gene associated with Pyruvate Kinase Deficiency of Red Cells is PKLR (Pyruvate Kinase L/R), and among its related pathways/superpathways are Collagen chain trimerization and Diseases of hemostasis. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and heart, and related phenotypes are splenomegaly and reticulocytosis

Common Targets
PKLR | UGT1A1

疾病靶点研报
Pyruvate kinase deficiency

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