title: A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.
abstract: We report the case of a 3-year-old Japanese boy with phosphoglycerate kinase 1 (PGK1) deficiency (Online Mendelian Inheritance in Man entry 311800). The patient had anaemia and jaundice at birth, necessitating exchange transfusions for 2 d. After one red blood cell transfusion at age 2 months, his Hb level was 8-9 g/dl, his reticulocyte counts were 300-500 x 109/l, and his total bilirubin level was 25.65-42.75 micro mol/l. The patient suffered two episodes of respiratory infection-associated haemolytic crisis and rhabdomyolysis during early infancy. At age 3.0 years, his developmental milestones (developmental quotients measured using the Tsumori-Inage methods) score was 49% (normal 74-131%), and his height was below average by -2.0 standard deviations. The diagnosis of PGK1 deficiency was made based on his remarkably low (< 10% of normal) erythrocyte PGK enzyme activity level and the identification of a novel missense (1060G-->C) PGK1 gene mutation. This mutation results in the Ala-353Pro amino acid substitution, which has been designated PGK Kyoto. The patient developed the full clinical symptoms of PGK1 deficiency including haemolytic anaemia, myopathy, central nervous system disorder and growth retardation, which is unusual.
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan. akiramorimoto@hotmail.com
authors.forename: Akira
authors.initials: A
authors.lastname: Morimoto
authors.forename: Ikuyo
authors.initials: I
authors.lastname: Ueda
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Hirashima
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Sawai
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Usuku
authors.forename: Gen
authors.initials: G
authors.lastname: Kano
authors.forename: Kikuko
authors.initials: K
authors.lastname: Kuriyama
authors.forename: Shinjiro
authors.initials: S
authors.lastname: Todo
authors.forename: Tohru
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Kanno
authors.forename: Hisaichi
authors.initials: H
authors.lastname: Fujii
authors.forename: Shinsaku
authors.initials: S
authors.lastname: Imashuku
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D010735:Phosphoglycerate Kinase / Q000172:deficiency / Q000235:genetics*; D012206:Rhabdomyolysis / Q000235:genetics*
chemical_list: D010735:Phosphoglycerate Kinase