Amish, Mennonite, and Hutterite
Genetic Disorder Database

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: anemia, splenomegaly, hepatomegaly, jaundice, sudden death 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: PKLR
Base Change: G>A, at nucleotide 1436
Amino Acid Change: arg 479 --> his
Last updated: 2012-12-17 

References
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, and 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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