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 anemia.

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 derived from chronic red blood cell (RBC) destruction (gallstones, splenomegaly, iron overload, etc.).

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 general term for when there are low levels of red blood cells in the bloodstream, and hemolytic (or hemolysis) means that the red blood cells break down prematurely.

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 anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia).

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 disorder and the most common cause of chronic hemolytic …

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 important step for ATP production. Deficiency of ATP in patients with pyruvate kinase deficiency (PKD) leads to the destruction of RBCs.

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 due to incomplete diagnostic algorithms and interpretation of the PK enzyme assay (see appendix). By this study a global PKD International Working Group, identified ...

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 lactate downstream to PKD, and accumulation of metabolites upstream.

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 production. ATP is essential for maintaining the structural and functional integrity of RBCs during their lifespan of 100 to 120 days.

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 PKD patients, decreases in late glycolysis were accompanied by accumulation of pentose phosphate pathway (PPP) metabolites, as a function of oxidant stress to purines (increased ...