Erythrocytes having pyruvate kinase deficiency are less permissive for P. falciparum infection. The gene that encodes pyruvate kinase exhibits excessive diversity in malaria endemic region such as sub-Saharan Africa. Pyruvate kinase variants possibly affect frequency and intensity of malaria episodes in ...
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...
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网络丙酮酸激酶缺乏症;丙酮酸鷼激酶缺乏;焦葡萄酸脢缺乏 网络释义 1. 丙酮酸激酶缺乏症 关节痛 arthralgia ... 蚕豆病 favism丙酮酸激酶缺乏症pyruvate kinase deficiency免疫性溶血性贫血 immune hemolytic anemia ... www.for68.com|基于33个网页 2. ...
These results suggest that pyruvate kinase deficiency may similarly protect humans against malaria.doi:10.1038/ng1260Min-Oo, GundulaFortin, AnnyTam, Mi-FongNantel, AndréStevenson, Mary MGros, PhilippeNat GenetNature GeneticsMin-Oo, G., Fortin, A., Tam, M-F., Nantel, A., Stevenson, M. M...
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 ...
Iron status in red cell pyruvate kinase deficiency: study of Italian cases Summary. We investigated the iron status of 33 pyruvate kinase (PK) deficient patients, most of the cases reported in Italy. Serum ferritin (SF) was higher than the upper limit of the range of matched controls in 15...
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Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of glycolysis causing chronic non-spherocytic haemolytic anaemia. The disease is transmitted as an autosomal recessive trait, clinical symptoms usually occurring in compound heterozygotes for two mutant alleles and in homoz...