Phosphoglycerate Kinase 1 Deficiency

11/01/2018 - "Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency."
10/01/2014 - "The diagnosis of PGK1 deficiency was made at 11 months of age on the basis of low PGK enzyme activity (36.7 IU/g Hb; normal, 264-326 IU/g Hb) and the identification through PGK1 gene sequencing of a novel missense mutation: c. "
07/01/2006 - "The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. "
09/01/2003 - "The diagnosis of PGK1 deficiency was made based on his remarkably low (< 10% of normal) erythrocyte PGK enzyme activity level and the identification of a novel missense (1060G-->C) PGK1 gene mutation. "
06/14/1985 - "Erythrocyte enzyme and substrate levels in two subjects with phosphoglycerate kinase deficiency are reported. "

04/01/1987 - "By contrast, in phosphofructokinase (PFK) or phosphoglycerate kinase (PGK) deficiency, the Pm peak was larger than that of inorganic phosphate in exercise, whereas it was always smaller in normal subjects. "
03/06/2000 - "By contrast, in hemolytic anemia associated with phosphofructokinase, glucosephosphate isomerase, triosephosphate isomerase, or phosphoglycerate kinase deficiency, activities of these enzymes measured in patient erythrocytes were significantly greater than the calculated critical values. "
03/06/2000 - "It was shown, however, that in phosphofructokinase, glucosephosphate isomerase, triosephosphate isomerase, or phosphoglycerate kinase deficiency, hemolytic anemia can arise because of the instability of these enzymes in time."

01/01/1995 - "Among rare enzymopathies, missense mutations have been determined in glucosephosphate isomerase deficiency, aldolase deficiency, triosephosphate isomerase (TPI) deficiency, phosphoglycerate kinase deficiency, and adenylate kinase deficiency. "
03/06/2000 - "By contrast, in hemolytic anemia associated with phosphofructokinase, glucosephosphate isomerase, triosephosphate isomerase, or phosphoglycerate kinase deficiency, activities of these enzymes measured in patient erythrocytes were significantly greater than the calculated critical values. "
03/06/2000 - "It was shown, however, that in phosphofructokinase, glucosephosphate isomerase, triosephosphate isomerase, or phosphoglycerate kinase deficiency, hemolytic anemia can arise because of the instability of these enzymes in time."

01/01/1995 - "Among rare enzymopathies, missense mutations have been determined in glucosephosphate isomerase deficiency, aldolase deficiency, triosephosphate isomerase (TPI) deficiency, phosphoglycerate kinase deficiency, and adenylate kinase deficiency. "
03/06/2000 - "By contrast, in hemolytic anemia associated with phosphofructokinase, glucosephosphate isomerase, triosephosphate isomerase, or phosphoglycerate kinase deficiency, activities of these enzymes measured in patient erythrocytes were significantly greater than the calculated critical values. "
03/06/2000 - "It was shown, however, that in phosphofructokinase, glucosephosphate isomerase, triosephosphate isomerase, or phosphoglycerate kinase deficiency, hemolytic anemia can arise because of the instability of these enzymes in time."

05/12/2004 - "Alterations in ATP metabolism likely disrupt similar pathways in humans, because PGK deficiency is associated with mental retardation, seizures, and exercise intolerance. "
09/17/2004 - "The calmodulin-binding domain shows 80% identity between diverse organisms and is situated beside the hinge and within the ATP binding domain adjacent to nine mutations associated with PGK deficiency. "
01/01/1996 - "X-linked phosphoglycerate kinase (PGK) deficiency is a rare disorder which affects the glycolytic pathway and leads to reduced ATP production. "
11/01/2017 - "Flow cytometry studies of band 3 content with eosin maleimide showed a unique tail of red cells on histograms, reflecting the dense red cells (presumably ATP depleted) seen on blood smears; similar findings were seen in patients with pyruvate kinase and phosphoglycerate kinase deficiency."

11/01/2017 - "Flow cytometry studies of band 3 content with eosin maleimide showed a unique tail of red cells on histograms, reflecting the dense red cells (presumably ATP depleted) seen on blood smears; similar findings were seen in patients with pyruvate kinase and phosphoglycerate kinase deficiency."
03/01/1988 - "Among 17 patients in whom pyruvate kinase assays or screening tests had been carried out in routine laboratories, the correct diagnoses had been made in only 4. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 15 patients, pyrimidine 5'-nucleotidase deficiency in 5, glucose phosphate isomerase deficiency in 3, adenylate kinase deficiency in 2, phosphoglycerate kinase deficiency in 1, and glutathione synthetase deficiency in 1 patient. "

12/01/1980 - "Erythrocyte phosphoglycerate kinase deficiency: enzymatic and oxygen binding studies."

11/01/2007 - "Whereas most known PGK1 mutations cause amino acid alterations, our study indicates that inhibition of the transcription mechanism is the cause of PGK deficiency."

11/01/2017 - "Flow cytometry studies of band 3 content with eosin maleimide showed a unique tail of red cells on histograms, reflecting the dense red cells (presumably ATP depleted) seen on blood smears; similar findings were seen in patients with pyruvate kinase and phosphoglycerate kinase deficiency."

01/01/2019 - "Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. "
02/01/2018 - "We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. "
05/01/2017 - "Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. "
03/01/2009 - "Phosphoglycerate kinase (PGK) deficiency was documented in muscle and erythrocytes and molecular analysis of the PGK1 gene identified a novel mutation, T378P. "
03/01/2009 - "Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations."

01/01/2020 - "Because of our patient's advanced disease progression, we initiated serial blood transfusions and report significant subjective improvement in the patient's physical condition before his passing from PGK deficiency-related complications."

02/01/2011 - "Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency."

12/01/2021 - "Anaesthesia Challenges for a Patient with Phosphoglycerate Kinase Deficiency Undergoing Open Gastrostomy Procedure: A Case Report."
12/01/2021 - "We describe for the first time the anaesthetic management of a patient with the X-linked phosphoglycerate kinase deficiency scheduled for an open gastrostomy procedure to facilitate enteral nutrition due to chronic oral aversion. "

12/01/2021 - "We describe for the first time the anaesthetic management of a patient with the X-linked phosphoglycerate kinase deficiency scheduled for an open gastrostomy procedure to facilitate enteral nutrition due to chronic oral aversion. "