Pyruvate kinase deficiencyis transmitted asautosomal recessive. The condition is detected in infancy or childhood due to anemia, jaundice,splenomegaly, andgall stones. The severity of the condition is widely variable, even among patients with the same level of deficiency. Fluorescent screening tests are...
Pyruvate kinase is a key enzyme in glucose metabolism. In man, deficiency is characterised by a variable degree of chronic haemolysis and anaemia. Like G6PD deficiency, the molecular basis of pyruvate kinase deficiency is diverse; however, to date its population distribution has not been ...
A2.一个重要的鉴别诊断是 遗传性球细胞增多症 (Hereditary spherocytosis),但血膜上 没有显示球细胞 (Spherocytes)。 最常见的遗传性糖酵解途径酶病(Inherited glycolytic pathway enzymopathies)是丙酮酸激酶缺乏症(Pyruvate kinase deficiency,PKD),也是本病的诊断。 自溶血试验 (Auto-hemolysis)具有历史和理论意义...
Indeed, cardiomyocyte-specific MPC1 knockout mice had increased myocardial amounts of the HIF-1 transcription targets such as lactate dehydrogenase A, pyruvate dehydrogenase kinase 1 and pyruvate kinase M2. Thus, the hypertrophy and failure observed in cardiomyocyte knockout mice MPC may be, at ...
Adiponectin deficiency in renal tubular epithelial cells disrupts lipid uptake and alters lipid distribution Adiponectin stimulates fatty acid oxidation through activation of AMP-activated protein kinase (AMPK) in myocytes45. Genes encoding key lipid uptake mediators are down-regulated in KSPAKO. In order...
Hemochromatosis and pyruvate kinase deficiency: report of a case and review of the literature. Ann Hematol. 1991; 62(5): 188-189.De Braekeleer, M., St-Pierre, C., Vigneault, A., Si- mard, H., and De Medicis, E. (1991) Hemochromato- sis and pyruvate-kinase deficiency--Report...
Pyruvate kinase (PK) deficiency is a rare hereditary disorder characterized by chronic hemolytic anemia and serious sequalae which negatively affect patient quality of life. This study aimed to psychometrically validate the first disease-specific patient-reported outcome (PRO) instruments: the 7-item ...
微基因是一个提供个人基因检测、临床应用研究和科研合作的综合平台,提供祖源溯源,遗传疾病,健康预测,运动基因,营养代谢,药物指南、心理特质、皮肤特性、生活指导等全面数据分析。
Journal of Blood Medicine Dovepress open access to scientific and medical research Open Access Full Text Article REVIEW Pyruvate Kinase Deficiency: Current Challenges and Future Prospects Bruno Fattizzo 1,2, Francesca Cavallaro1,2, Anna Paola Maria Luisa Marcello1, Cristina Vercellati1, Wilma Bar...
function, and highlight the potential of dietary interventions to enhance cardiac fat metabolism to prevent or reverse cardiac dysfunction and remodelling in the setting of MPC deficiency. Access options Access Nature and 54 other Nature Portfolio journals...