×
About 335 results

ALLMedicine™ Pyruvate Kinase Deficiency Center

Research & Reviews  163 results

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argen...
https://doi.org/10.1016/j.clinbiochem.2021.02.003
Clinical Biochemistry; Milanesio B, Pepe C et. al.

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...

Comorbidities and complications in adults with pyruvate kinase deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985869
European Journal of Haematology; Boscoe AN, Yan Y et. al.

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...

Anesthesia management for ENT surgery in a child with X-linked pyruvate kinase deficiency.
https://doi.org/10.1111/pan.14105
Paediatric Anaesthesia; Hau V, Bonilla-Velez J et. al.

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 ...

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for ...
https://doi.org/10.3324/haematol.2020.266957
Haematologica Van Dooijeweert B, Broeks MH et. al.

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...

Molecular heterogeneity of pyruvate kinase deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556514
Haematologica Bianchi P, Fermo E

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...

see more →

Guidelines  1 results

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7344868
American Journal of Hematology; Bianchi P, Fermo E et. al.

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...

see more →

Clinicaltrials.gov  167 results

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argen...
https://doi.org/10.1016/j.clinbiochem.2021.02.003
Clinical Biochemistry; Milanesio B, Pepe C et. al.

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...

Comorbidities and complications in adults with pyruvate kinase deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7985869
European Journal of Haematology; Boscoe AN, Yan Y et. al.

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...

Anesthesia management for ENT surgery in a child with X-linked pyruvate kinase deficiency.
https://doi.org/10.1111/pan.14105
Paediatric Anaesthesia; Hau V, Bonilla-Velez J et. al.

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 ...

A 2-Month-Old Boy With Yellow Eyes: Osmosis USMLE Study Question of the Week
https://www.medscape.com/viewarticle/892693_2

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 ...

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for ...
https://doi.org/10.3324/haematol.2020.266957
Haematologica Van Dooijeweert B, Broeks MH et. al.

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...

see more →

News  4 results

A 2-Month-Old Boy With Yellow Eyes: Osmosis USMLE Study Question of the Week
https://www.medscape.com/viewarticle/892693_2

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 ...

Mitapivat elicits positive response in pyruvate kinase deficiency
https://www.mdedge.com/hematology-oncology/article/207433/anemia/mitapivat-elicits-positive-response-pyruvate-kinase?channel=39313
Caleb Rans

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.

Fast Five Quiz: Anemia
https://reference.medscape.com/viewarticle/909145_2

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...

FDA grants drug orphan status to treat PKD
https://www.mdedge.com/hematology-oncology/article/188033/anemia/fda-grants-drug-orphan-status-treat-pkd
HT Staff

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.

see more →