Pyruvate kinase deficiency (PKD) is an autosomal recessive trait in which there is a lack of the enzyme pyruvate kinase. Because of this lack of pyruvate kinase, red blood cells are broken down more freely, thereby causing hemolytic anemia. The degree to which the hemolysis occurs varies from...
Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.doi:10.1203/00006450-198404001-00775Johnston, KPackman, SNewth, CPatel, MSheu, K-FHeldt, GPediatric Research...
Pyruvate kinase deficiency, one of the most common enzymatic defects of the erythrocyte, manifests clinically as a hemolytic anemia that can range from a mildly compensated anemia to severe anemia of childhood. It is caused by mutations in the PKLR gene. Surprisingly, however, the symptomatology ...
However, as the majority of cases of PDH deficiency result from defects in the X-linked E1 alpha subunit and both females had biased patterns of X-inactivation (making it impossible to rule out the possibility that they were heterozygous for an E1 alpha gene defect) molecular genetic studies ...
Introduction Pyruvate kinase (PK) deficiency is the most common glycolytic pathway defect that leads to hereditary hemolytic anemia with autosomal recessive inheritance pattern, which may present with severe hemolysis in the neonatal period, frequent blood transfusion requirement during infancy or with milde...
Pyruvate kinase deficiency is the most common glycolytic enzyme deficiency. Since the conversion of PEP to pyruvate is critical for the net production of ATP, a reduction in the energy needed for electrolyte balance leads to an osmotic imbalance and to RBC swelling and rupture and produces hemolyti...
Pyruvate Kinase Deficiency Genetics of Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH) Syndrome Pyruvate Carboxylase Deficiency Disorders of Carbohydrate Metabolism Lactic Acidosis News & Perspective Europe at Risk for Iodine Deficiency Resurgence Investigational Treatment Promising for SORD Deficie...
Pyruvate kinase and glucose –6-phosphate dehydrogenase deficiencies in Jordan In six patients with mitochondrial (encephalo-) myopathy investigations of skeletal muscle revealed a defect of pyruvate dehydrogenase complex (PDHC) in co... NS Karadsheh 被引量: 4发表: 1985年 Deficiencies within the Pyruv...
Pyruvate Dehydrogenase Deficiency(PDHA) is a human genetic disease. It follows a sex-linked, dominant inheritance pattern, but is approximately equally prevalent in both males and females. It affects a gene which codes for a critical enzyme complex, thePyruvate dehydrogenase complex(PDC) which links...
[84]. Pyruvate dehydrogenase kinase (PDK) is a negative regulator of PDC and inhibits PDC activity[84]. The pyruvate dehydrogenase kinase (PDK) family, including PDK1, PDK2, PDK3, and PDK4, is closely related to tumour progression[84]. When PDC activity is inhibited, lactate accumulation ...