Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency

Blood

Volumn 87, Issue 5, 1996, Pages 2071-2074

  Hirono, Akira ^a   Iyori, Hideaki ^b   Sekine, Isao ^b   Ueyama, Junichi ^b   Chiba, Hirotane ^b   Kanno, Hitoshi ^b   Fujii, Hisaichi ^b   Miwa, Shiro ^b  

^a Okinaka Memorial Institute for Medical Research   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMATE CYSTEINE LIGASE; GLUTATHIONE; GLUTATHIONE SYNTHASE; GLUTATHIONE TRANSFERASE; PYROGLUTAMIC ACID;

ADOLESCENT; AMINO ACID URINE LEVEL; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; ERYTHROCYTE METABOLISM; FEMALE; GLUTATHIONE METABOLISM; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; JAPAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0030029229     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.5.2071.2071     Document Type: Article

References (28)

1. Oort M, Loos JA, Prins HK: Hereditary absence of reduced glutathione in the erythrocytes - A new clinical and biochemical entity? Vox Sang 6:370, 1961
2. Konrad PN, Richards F II, Valentine WN, Paglia DE: γ-Glutamyl-cysteine synthetase deficiency. N Engl J Med 286:557, 1972
3. Beutler E, Moroose R, Kramer L, Gelbart T, Forman L: Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia. Blood 75:271, 1990
4. Boivin P, Galand C: La synthèse du glutathion au cours de l'anémie hémolytique congénitale avec déficit en glutathion réduit. Déficit congénital en glutathion-synthétase érythrocytaire? Nouv Rev Fr Hematol 5:707, 1965
5. Mohler DN, Majerus PW, Minnich V, Hess CE, Garrick MD: Glutathione synthetase deficiency as a cause of hereditary hemolytic disease. N Engl J Med 283:1253, 1970
6. Boivin P, Galand C, Schaison G: Déficit en glutathion-synthétase avec 5-oxoprolinurie. Deux nouveaux cas et revue de la littérature. Nouv Presse Med 7:1531, 1978
7. Beutler E, Gelbart T, Pegelow C: Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency. J Clin Invest 77:38, 1986
8. Jellum E, Kluge T, Börresen, Stokke O, Eldjarn L: Pyroglutamic aciduria - A new inborn error of metabolism. Scand J Clin Lab Invest 26:327, 1970
9. Hagenfeldt L, Larsson A, Zetterström R: Pyroglutamic aciduria. Studies in an infant with chronic metabolic acidosis. Acta Pediatr Scand 63:1, 1974
10. Wellner VP, Sekura R, Meister A, Larsson A: Glutathione synthetase deficiency, an inborn error of metabolism involving the γ-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria). Proc Natl Acad Sci USA 71:2505, 1974
11. Spielberg SP, Kramer LI, Goodman SI, Butler J, Tietze F, Quinn P, Schulman JD: 5-Oxoprolinuria: Biochemical observations and case report. J Pediatr 91:237, 1977
12. Porath U, Schreier K: Eine Familie mit Pyroglutaminacidurie. Dtsch Med Wochenschr 103:939, 1978
13. Prehal JT, Crist WM, Roper M, Wellner VP: Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. Blood 62:754, 1983
14. Robertson PL, Buchanan DN, Muenzer J: 5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis. J Pediatr 118:92, 1991
15. Divry P, Rouland-Parrot F, Dorche C, Zabot MT, Contraine B, Hagenfeldt L, Larsson A: 5-Oxoprolinuria (glutathione synthetase deficiency): A case with neonatal presentation and rapid fatal outcome. J Inherit Metab Dis 14:341, 1991
16. Pejaver RK, Watson AH: 5-Oxoprolinuria due to glutathione synthetase deficiency J Inherit Metab Dis 15:937, 1992
17. Mayatepek E, Hoffmann GF, Carlsson B, Larsson A, Becker K: Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency. Pediatr Res 35:307, 1994
18. Spielberg SP, Garrick MD, Corash LM, Butler JD, Tietze F, Rogers LV, Schulman JD: Biochemical heterogeneity in glutathione synthetase deficiency. J Clin Invest 61:1417, 1978
19. Beutler E: Glutathione deficiency, pyroglutamic acidemia and amino acid transport. N Engl J Med 295:441, 1976
20. Beutler E: Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. Proc Natl Acad Sci USA 80:3767, 1983
21. Beutler E, West C, Blume KG: The removal of leukocytes and platelets from whole blood. J Lab Clin Med 88:328, 1976
22. Beutler E, in Red Cell Metabolism: A Manual of Biochemical Methods. Philadelphia, PA, Grune & Stratton, 1984
23. Miwa S, Luzzatto L, Rosa R, Paglia DE, Schröter W, De Flora A, Fujii H, Board PG, Beutler E: International committee for standardization in haematology: Recommended methods for an additional red cell enzyme (pyrimidine 5′-nucleotidase) assay and the determination of red cell adenosine 5′-triphosphate, 2,3-diphosphoglycerate and reduced glutathione. Clin Lab Haematol 11:131, 1989
24. Marstein S, Jellum E, Halpern B, Eldjarn L, Perry TL: Biochemical studies of erythrocytes in a patient with pyroglutamic acidemia (5-oxoprolinemia). N Engl J Med 295:406, 1976
25. Lund P: L-Glutamine and L-glutamate: UV-method with glutaminase and glutamate dehydrogenase, in Bergmeyer HU (ed): Methods of Enzymatic Analysis, Vol. VIII. New York, NY, Academic, 1984, p 357
26. Richards F II, Cooper MR, Pearce LA, Cowan RJ, Spurr CL: Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency. Arch Intern Med 134:534, 1974
27. Fujii H, Miwa S: Recent progress in the molecular genetic analysis of erythroenzymopathy. Am J Hematol 34:301, 1990
28. Palekar AG, Tate SS, Meister A: Formation of 5-oxoproline from glutathione in erythrocytes by the γ-glutamyltranspeptidase-cyclotransferase pathway. Proc Natl Acad Sci USA 71:293, 1974