Red cell enzymes.
Mutations leading to red cell enzyme deficiencies can be associated with diverse phenotypes that range from hemolytic anemia, methemoglobinemia, polycythemia, and neurological and developmental abnormalities. While most of these mutations occur sporadically, some such as common glucose-6-phosphate dehydrogenase (G6PD) mutants are endemic and rarely cause disease. Common G6PD mutants likely reached their prevalence because they provide some protection against severe malarial complications. In this review G6PD, pyruvate kinase, 5' nucleotidase, and cytochrome b5 reductase deficiencies will be discussed in greater detail. Limitations of commonly used screening tests for detection of these disorders will also be emphasized, as well as emerging knowledge about non-enzymatic function of the glycolytic enzymes.
Prchal
Josef T
JT
Baylor College of Medicine, One Baylor Plaza, 802E, Houston, Texas 77030, USA. jprchal@bcm.tmc.edu
Gregg
Xylina T
XT
D015720:5'-Nucleotidase / Q000097:blood / Q000172:deficiency / Q000235:genetics; D000743:Anemia, Hemolytic / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D042966:Cytochrome-B(5) Reductase / Q000097:blood / Q000172:deficiency / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology*; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics*; D006019:Glycolysis; D006801:Humans; D008288:Malaria / Q000150:complications; D008706:Methemoglobin / Q000235:genetics; D008708:Methemoglobinemia / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D011086:Polycythemia / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency / Q000235:genetics
D008706:Methemoglobin; D005954:Glucosephosphate Dehydrogenase; D042966:Cytochrome-B(5) Reductase; D011770:Pyruvate Kinase; D015720:5'-Nucleotidase