A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.

C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis. -->
Autoři: Morimoto A; Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan. akiramorimoto@hotmail.com, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, Kuriyama K, Todo S, Sugimoto T, Kanno H, Fujii H, Imashuku S
Zdroj: British journal of haematology [Br J Haematol] 2003 Sep; Vol. 122 (6), pp. 1009-13.
Způsob vydávání: Case Reports; Journal Article; Review
Jazyk: English
Informace o časopise: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print Cited Medium: Print ISSN: 0007-1048 (Print) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE
Imprint Name(s): Publication: Oxford : Wiley-Blackwell
Original Publication: Oxford : Blackwell Scientific Publications
Výrazy ze slovníku MeSH: Mutation, Missense*, Anemia, Hemolytic, Congenital/*genetics , Developmental Disabilities/*genetics , Phosphoglycerate Kinase/*genetics , Rhabdomyolysis/*genetics, Child, Preschool ; Humans ; Male ; Models, Molecular ; Phosphoglycerate Kinase/deficiency
Abstrakt: 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.
Number of References: 29
Substance Nomenclature: EC 2.7.2.3 (Phosphoglycerate Kinase)
Entry Date(s): Date Created: 20030906 Date Completed: 20031024 Latest Revision: 20190705
Update Code: 20240829
DOI: 10.1046/j.1365-2141.2003.04543.x
PMID: 12956773
Autor: Morimoto A; Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan. akiramorimoto@hotmail.com, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, Kuriyama K, Todo S, Sugimoto T, Kanno H, Fujii H, Imashuku S
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2003 Sep; Vol. 122 (6), pp. 1009-13.
DOI: 10.1046/j.1365-2141.2003.04543.x
Abstrakt: 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.
Databáze: MEDLINE
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