Red Cell Enzyme Deficiencies as a Cause of Hemolytic Disorders
| Autor: | W N Valentine |
|---|---|
| Rok vydání: | 1972 |
| Předmět: |
Genetics
Anemia Hemolytic Cell type Erythrocytes Phosphofructokinase-1 Citric Acid Cycle General Medicine Disease Biology Clinical disease Glutathione General Biochemistry Genetics and Molecular Biology Red cell enzyme Phosphoglycerate Kinase Adenosine Triphosphate Glucosephosphate Dehydrogenase Deficiency Idiosyncratic reactions Metabolic Diseases Splenectomy Humans Hexosephosphates Carbohydrate Epimerases Metabolism Inborn Errors |
| Zdroj: | Annual Review of Medicine. 23:93-100 |
| ISSN: | 1545-326X 0066-4219 |
| DOI: | 10.1146/annurev.me.23.020172.000521 |
| Popis: | The human red cell, biologically speaking, is intriguingly but deceptively simplistic. Freely floating, separable from contaminating cell types, devoid of a nucleus and cellular organelles, restricted in its energy needs and in the mechanisms for meeting them, it can be biopsied repeatedly with safety and offers many lures to the investigator. In recent years its enzymatic machinery has been explored with increasing intensity, and a variety of genetically determined inborn errors have been demonstrated (Valentine, 1, 2; Jaffe, 3). Some have been associated etiologically with hereditary hemolytic disease, and some have clarified mechanisms of what formerly were regarded as idiosyncratic reactions to drugs. Some have provided a convenient diagnostic tool for defining diseases not characterized by he matopoietic abnormalities. In still others, the definition of genetically de termined enzymopathy has been a curiosity with no counterpart in clinical disease. |
| Databáze: | OpenAIRE |
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