Pyruvate kinase deficiency of red cells
| Disorder | |
|---|---|
| OMIM #: | #266200 (Click to access OMIM database) |
| Disorder: | Pyruvate kinase deficiency of red cells |
| Also known as: | Pyruvate kinase deficiency of erythrocyte PK deficiency |
| Clinical | |
| Phenotype: | hemolytic anemia, decreased hemoglobin, splenomegaly, hepatomegaly, jaundice, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | PKLR |
| Base Change: | G>A, at nucleotide 1436 |
| Amino Acid Change: | arg 479 --> his |
| Last updated: | 2022-11-15 |
| References |
|---|
| Al-Samkari H, van Beers EJ, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kuo KHM, Kollmar N, Despotovic JM, Pospíšilová D, Knoll CM, Kwiatkowski JL, Pastore YD, Thompson AA, Wlodarski MW, Ravindranath Y, Rothman JA, Wang H, Holzhauer S, Breakey VR, Verhovsek MM, Kunz J, et al. (2020) Characterization of the severe phenotype of pyruvate kinase deficiency. Am J Hematol doi: 10.1002/ajh.25926. PubMed ID: 32619047 |
| Bowman HS, Procopio F. (1963) Hereditary non-spherocytic hemolytic anemia of the pyruvate-kinase deficient type. Ann. Intern. Med. 58:567-591. PubMed ID: 14014643 |
| Kanno H, Ballas S, Miwa S, Fujii H, and Bowman H. (1994) Molecular Abnormality of Erythroctye Pyruvate Kinase Deficiency in the Amish. Blood 83(8): 2311-2316. PubMed ID: 8161798 |
| Muir W, Beutler E, Wasson C. (1984) Erythrocyte Pyruvate Kinase Deficiency in the Ohio Amish: Origin and Characterization of the Mutant Enzyme. Am J Hum Genet 36:634-639. PubMed ID: 6731438 |
| Rider NL, Strauss KA, Brown K, Finkenstedt A, Puffenberger EG, Hendrickson CL, Robinson DL, Muenke N, Tselepis C, Saunders L, Zoller H, Morton DH. (2011) Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management. Am J Hematol 86:827–834. PubMed ID: 21815188 |
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