Pyruvat kinase deficiency and nonspherocytic hemolytic anemia
| Rok vydání: | 2020 |
|---|---|
| Předmět: |
0301 basic medicine
Enzyme Gene Regulatory enzymes Enzyme function Immunology Hematology Biology medicine.disease Hemolysis Structure and function 03 medical and health sciences Hereditary nonspherocytic hemolytic anemia 030104 developmental biology 0302 clinical medicine Oncology Biochemistry 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health medicine Immunology and Allergy Glycolysis Pyruvate kinase |
| Zdroj: | Pediatric Hematology/Oncology and Immunopathology. 19:121-130 |
| ISSN: | 2414-9314 1726-1708 |
| DOI: | 10.24287/1726-1708-2020-19-3-121-130 |
| Popis: | The review is devoted to one of the main regulatory enzymes of glycolysis in erythrocytes – pyruvate kinase, a deficiency of which is often the cause of hereditary nonspherocytic hemolytic anemia. The article presents data on the structure and function of pyruvate kinase and the currently known mutations of coding this enzyme gene. Authors analyzed associations between various genetic types and impaired enzyme function and the severity of the hemoly sis. |
| Databáze: | OpenAIRE |
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