2023年4月27日 · Pyruvate kinase deficiency (PKD) is the most common enzyme-related glycolytic defect that results in red cell hemolysis. Invariably, PKD results in hereditary non-spherocytic …

Pyruvate kinase deficiency (PKD) is a congenital hemolytic disease characterized by a variable degree of anemia from mild to transfusion dependent and heterogenous clinical features …

2023年8月22日 · Pyruvate kinase deficiency (PKD) is a rare genetic disorder characterized by the premature destruction of red blood cells, which is called hemolytic anemia. Anemia is a …

Pyruvate kinase deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic …

Pyruvate kinase (PK) deficiency is an inherited (autosomal recessive) red blood cell (RBC) enzyme disorder that causes chronic hemolysis. It is the second most common RBC enzyme …

2024年6月1日 · Since red blood cells (RBC) rely on anaerobic metabolism, converting phosphoenolpyruvate to pyruvate in Embden– Meyerhof glycolytic pathway is the most …

PKD is the most common enzyme defect of glycolysis and thereby an important cause of hereditary nonspherocytic hemolytic anemia. In daily practice, diagnosing PKD may be difficult …

As a result, we confirm that PKD mutation R479H – the only variant investigated here – is associated with the dysregulation of late RBC glycolysis, with severe depletion of pyruvate and …

2020年9月10日 · Healthy red blood cells (RBCs) rely mainly on glycolysis for generation of red cell ATP. PK catalyzes the conversion of phosphoenolpyruvate to pyruvate, resulting in ATP …

2021年10月21日 · Methods: Mass spectrometry-based metabolomics analyses were performed on red blood cells (RBCs) from healthy controls (n=10) and PKD patients (n=5). Results: In …