ALLMedicine™ Pyruvate Kinase Deficiency Center

Feb 25th, 2021 - Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian p...

Dec 28th, 2020 - Pyruvate kinase (PK) deficiency is caused by PKLR gene mutations, leading to defective red blood cell glycolysis and hemolytic anemia. Rates of comorbidities and complications by transfusion history and relative to the general population remain po...

Dec 9th, 2020 - Pyruvate dehydrogenase complex deficiency (PDCD) is a rare X-linked disorder that affects glucose metabolism. There are several case reports describing the anesthetic management of patients with PDCD. This is the first case report to describe the ...

Oct 15th, 2020 - The diagnostic evaluation and clinical characterization of rare hereditary anemia (RHA) is to date still challenging. In particular, there is little knowledge on the broad metabolic impact of many of the molecular defects underlying RHA. In this s...

Oct 15th, 2020 - Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an autosomal recessive trait, is caused by mutations in the PKLR gene and is cha...

Oct 25th, 2018 - Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding i...

Feb 25th, 2021 - Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian p...

Dec 28th, 2020 - Pyruvate kinase (PK) deficiency is caused by PKLR gene mutations, leading to defective red blood cell glycolysis and hemolytic anemia. Rates of comorbidities and complications by transfusion history and relative to the general population remain po...

Dec 9th, 2020 - Pyruvate dehydrogenase complex deficiency (PDCD) is a rare X-linked disorder that affects glucose metabolism. There are several case reports describing the anesthetic management of patients with PDCD. This is the first case report to describe the ...

Oct 29th, 2020 - Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase, which affects the survival of erythrocytes. Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more ...

Oct 15th, 2020 - The diagnostic evaluation and clinical characterization of rare hereditary anemia (RHA) is to date still challenging. In particular, there is little knowledge on the broad metabolic impact of many of the molecular defects underlying RHA. In this s...

Oct 29th, 2020 - Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase, which affects the survival of erythrocytes. Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more ...

Sep 4th, 2019 - Mitapivat showed positive safety and efficacy outcomes in patients with pyruvate kinase deficiency, according to results from a phase 2 trial. After 24 weeks of treatment, the therapy was associated with a rapid rise in hemoglobin levels in 50% of.

Feb 19th, 2019 - Glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency are the two most common enzyme defects that cause hemolytic anemia. Glucose-6-phosphate dehydrogenase deficiency affects the pentose phosphate pathway, and pyruvate kinase...

Mar 28th, 2015 - Red blood cells Image courtesy of NHLBI The US Food and Drug Administration (FDA) has granted orphan drug designation to AG-348 for the treatment of pyruvate kinase deficiency (PKD), a rare form of hemolytic anemia. AG-348 is a small molecule allo.