title: Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK Sendai and PK Shinshu.
abstract: Two new erythrocyte pyruvate kinase (PK) variants with severe nonspherocytic hemolytic anemia are presented. These cases are both considered to be homozygous because of the consanguineous marriages in their parents. Their erythrocyte PK's were characterized by the recommended methods of the International Committee for Standardization in Haematology (ICSH). These two variants have been named PK Sendai and PK Shinshu. PK Sendai showed a high K0.5S (phosphoenolpyruvate), was remarkably inhibited by ATP, and was thermolabile, while PK Shinshu demonstrated remarkably low enzyme activity and required a high level of fructose 1,6-diphosphate for activation.
authors.affiliation: Department of Pediatrics, School of Medicine, Tohoku University, Sendai, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Tani
authors.forename: H
authors.initials: H
authors.lastname: Tsutsumi
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: H
authors.initials: H
authors.lastname: Ogura
authors.forename: H
authors.initials: H
authors.lastname: Kanno
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
authors.forename: T
authors.initials: T
authors.lastname: Nakahata
authors.forename: T
authors.initials: T
authors.lastname: Akabane
authors.forename: T
authors.initials: T
authors.lastname: Morisaki
mesh_terms: D000293:Adolescent; D000743:Anemia, Hemolytic / Q000097:blood / Q000150:complications; D003241:Consanguinity; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006720:Homozygote; D006801:Humans; D007565:Jaundice / Q000150:complications; D011770:Pyruvate Kinase / Q000172:deficiency*
chemical_list: D011770:Pyruvate Kinase