Page 746 - Williams Hematology ( PDFDrive )
P. 746
720 Part VI: The Erythrocyte Chapter 47: Erythrocyte Enzyme Disorders 721
521. Rosa-Borges A, Sampaio MG, Condino-Neto A, et al: Glucose-6-phosphate dehydro- 558. Vora S, Rattazzi MC, Scandalios JG, et al: Isozymes of human phosphofructokinase:
genase deficiency with recurrent infections: Case report. J Pediatr (Rio J) 77:331–336, Biochemical and genetic aspects, in Isozymes: Current Topics in Biological and Medical
2001. Research, pp 3–23. Alan R. Liss, New York, 1983.
522. Chao YC, Huang CS, Lee CN, et al: Higher infection of dengue virus serotype 2 in 559. Wellner VP, Sekura R, Meister A, et al: Glutathione synthetase deficiency, an inborn
human monocytes of patients with G6PD deficiency. PLoS One 3:e1557, 2008. error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxopro-
523. Gray GR, Naiman SC, Robinson GC: Platelet function and G6PD deficiency. Lancet linuria (pyroglutamic aciduria). Proc Natl Acad Sci U S A 71:2505–2509, 1974.
1:997, 1974. 560. Skala H, Dreyfus JC, Vives-Corrons JL, et al: Triose phosphate isomerase deficiency.
524. Schwartz JP, Cooperberg AA, Rosenberg A: Platelet-function studies in patients with Biochem Med 18:226–234, 1977.
glucose-6-phosphate dehydrogenase deficiency. Br J Haematol 27:273–280, 1974. 561. Valentine WN, Schneider AS, Baughan MA, et al: Hereditary hemolytic anemia with
525. Westring DW, Pisciotta AV: Anemia, cataracts, and seizures in patient with glucose-6- triosephosphate isomerase deficiency. Am J Med 41:27–41, 1966.
phosphate dehydrogenase deficiency. Arch Intern Med 118:385–390, 1966. 562. Hollán S, Magócsi M, Fodor E, et al: Search for the pathogenesis of the differing phe-
526. Harley JD, Agar NS, Gruca MA, et al: Cataracts with a glucose-6-phosphate dehydroge- notype in two compound heterozygote Hungarian brothers with the same genotypic
nase variant. BMJ 2:86, 1975. triosephosphate isomerase deficiency. Proc Natl Acad Sci U S A 94:10362–10366, 1997.
527. Harley JD, Agar NS, Yoshida A: Glucose-6-phosphate dehydrogenase variants: Gd (+) 563. Hollán S, Fujii H, Hirono A, et al: Hereditary triosephosphate isomerase (TPI) defi-
Alexandra associated with neonatal jaundice and Gd (–) Camperdown in a young man ciency: Two severely affected brothers one with and one without neurological symp-
with lamellar cataracts. J Lab Clin Med 91:295–300, 1978. toms. Hum Genet 92:486–490, 1993.
528. Nair V, Hasan SU, Romanchuk K, et al: Bilateral cataracts associated with glucose-6- 564. Noel N, Flanagan JM, Ramirez Bajo MJ, et al: Two new phosphoglycerate kinase muta-
phosphate dehydrogenase deficiency. J Perinatol 33:574–575, 2013. tions associated with chronic haemolytic anaemia and neurological dysfunction in two
529. Panich V, Na-Nakorn S: G 6 PD deficiency in senile cataracts. Hum Genet 55:123–124, patients from Spain. Br J Haematol 132:523–529, 2006.
1980. 565. DiMauro S, Dalakas M, Miranda AF: Phosphoglycerate kinase deficiency: Another
530. Orzalesi N, Sorcinelli R, Guiso G: Increased incidence of cataract in male subjects defi- cause of recurrent myoglobinuria. Ann Neurol 13:11–19, 1983.
cient in glucose-6-phosphate dehydrogenase. Arch Ophthalmol 99:69–70, 1981. 566. Branca R, Costa E, Rocha S, et al: Coexistence of congenital red cell pyruvate kinase and
531. Bhatia RP, Patel R, Dubey B: Senile cataract and glucose-6-phosphate dehydrogenase band 3 deficiency. Clin Lab Haematol 26:297–300, 2004.
deficiency in Indians. Trop Geogr Med 42:349–351, 1990. 567. Zarza R, Moscardó M, Alvarez R, et al: Co-existence of hereditary spherocytosis and a
532. Assaf AA, Tabbara KF, el-Hazmi MA: Cataracts in glucose-6-phosphate dehydrogenase new red cell pyruvate kinase variant: PK Mallorca. Haematologica 85:227–232, 2000.
deficiency. Ophthalmic Paediatr Genet 14:81–86, 1993. 568. Vercellati C, Marcello AP, Fermo E, et al: A case of hereditary spherocytosis misdiag-
533. Niazi GA: Glucose-6-phosphate dehydrogenase deficiency and diabetes mellitus. Int J nosed as pyruvate kinase deficient hemolytic anemia. Clin Lab 59:421–424, 2013.
Hematol 54:295–298, 1991. 569. Beutler E, Forman L: Coexistence of α-thalassemia and a new pyruvate kinase variant:
534. Saeed TK, Hamamy HA, Alwan AA: Association of glucose-6-phosphate dehydroge- PK Fukien. Acta Haematol 69:3–8, 1983.
nase deficiency with diabetes mellitus. Diabet Med 2:110–112, 1985. 570. Vives Corrons JL, García AM, Sosa AM, et al: Heterozygous pyruvate kinase deficiency
535. Heymann AD, Cohen Y, Chodick G: Glucose-6-phosphate dehydrogenase deficiency and severe hemolytic anemia in a pregnant woman with concomitant, glucose-6-phos-
and type 2 diabetes. Diabetes Care 35:e58, 2012. phate dehydrogenase deficiency. Ann Hematol 62:190–193, 1991.
536. Ninfali P, Bresolin N, Baronciani L, et al: Glucose-6-phosphate dehydrogenase Lodi 844C : 571. Zanella A, Bianchi P, Iurlo A, et al: Iron status and HFE genotype in erythrocyte pyru-
A study on its expression in blood cells and muscle. Enzyme 45:180–187, 1991. vate kinase deficiency: Study of Italian cases. Blood Cells Mol Dis 27:653–661, 2001.
537. Ninfali P, Baronciani L, Bardoni A, et al: Muscle expression of glucose-6-phosphate 572. Olah J, Orosz F, Puskas LG, et al: Triosephosphate isomerase deficiency: Consequences
dehydrogenase deficiency in different variants. Clin Genet 48:232–237, 1995. of an inherited mutation at mRNA, protein and metabolic levels. Biochem J 392:
538. Bresolin N, Bet L, Moggio M, et al: Muscle G6PD deficiency. Lancet 2:212–213, 1987. 675–683, 2005.
539. Bresolin N, Bet L, Moggio M, et al: Muscle glucose-6-phosphate dehydrogenase defi- 573. Kanno H, Wei DC, Chan LC, et al: Hereditary hemolytic anemia caused by diverse
ciency. J Neurol 236:193–198, 1989. point mutations of pyruvate kinase gene found in Japan and Hong Kong. Blood
540. Liguori R, Giannoccaro MP, Pasini E, et al: Acute rhabdomyolysis induced by tonic- 84:3505–3509, 1994.
clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase defi- 574. Diez A, Gilsanz F, Martinez J, et al: Life-threatening nonspherocytic hemolytic anemia
ciency. J Neurol 260:2669–2671, 2013. in a patient with a null mutation in the PKLR gene and no compensatory PKM gene
541. Mailloux RJ, Harper ME: Glucose regulates enzymatic sources of mitochondrial expression. Blood 106:1851–1856, 2005.
NADPH in skeletal muscle cells; a novel role for glucose-6-phosphate dehydrogenase. 575. Danon D, Sheba C, Ramot B: The morphology of glucose 6 phosphate dehydrogenase
FASEB J 24:2495–2506, 2010. deficient erythrocytes: Electron-microscopic studies. Blood 17:229–234, 1961.
542. Demir AY, van Solinge WW, van Oirschot B, et al: Glucose 6-phosphate dehydrogenase 576. Greenberg MS: Heinz body hemolytic anemia. Arch Intern Med 136:153–155, 1976.
deficiency in an elite long-distance runner. Blood 113:2118–2119, 2009. 577. Nathan DM, Siegel AJ, Bunn HF: Acute methemoglobinemia and hemolytic anemia
543. Theodorou AA, Nikolaidis MG, Paschalis V, et al: Comparison between glucose-6- with phenazopyridine. Arch Intern Med 137:1636–1638, 1977.
phosphate dehydrogenase-deficient and normal individuals after eccentric exercise. 578. Oski FA, Nathan DG, Sidel VW, et al: Extreme hemolysis and red-cell distortion in
Med Sci Sports Exerc 42:1113–1121, 2010. erythrocyte pyruvate kinase deficiency. N Engl J Med 270:1023–1030, 1964.
544. Jamurtas AZ, Fatouros IG, Koukosias N, et al: Effect of exercise on oxidative stress in 579. Mentzer WC Jr, Baehner RL, Schmidt-Schonbein H, et al: Selective reticulocyte
individuals with glucose-6-phosphate dehydrogenase deficiency. In Vivo 20:875–880, destruction in erythrocyte pyruvate kinase deficiency. J Clin Invest 50:688–699, 1971.
2006. 580. Beutler E: Red Cell Metabolism. A Manual of Biochemical Methods, 3rd ed., Grune &
545. Sulis E: G6PD deficiency and cancer. Lancet 1:1185, 1972. Stratton, Orlando, FL, 1984.
546. Zampella EJ, Bradley EL, Pretlow TG: Glucose-6-phosphate dehydrogenase: A possible 581. Recommended methods for the characterization of red cell pyruvate kinase variants.
clinical indicator for prostatic carcinoma. Cancer 49:384–387, 1982. International Committee for Standardization in Haematology. Br J Haematol 43:
547. Ferraris AM, Broccia G, Meloni T, et al: Glucose-6-phosphate dehydrogenase defi- 275–286, 1979.
ciency and incidence of hematologic malignancy. Am J Hum Genet 42:516–520, 1988. 582. Beutler E, Blume KG, Kaplan JC, et al: International Committee for Standardization
548. Forteleoni G, Argiolas L, Farris A, et al: G6PD deficiency and breast cancer. Tumori in Haematology: Recommended methods for red-cell enzyme analysis. Br J Haematol
74:665–667, 1988. 35:331–340, 1977.
549. Pisano M, Cocco P, Cherchi R, et al: Glucose-6-phosphate dehydrogenase deficiency 583. Beutler E, Blume KG, Kaplan JC, et al: International Committee for Standardization in
and lung cancer: A hospital based case-control study. Tumori 77:12–15, 1991. Haematology: Recommended screening test for glucose-6-phosphate dehydrogenase
550. Jiang P, Du W, Wang X, et al: p53 regulates biosynthesis through direct inactivation of (G6PD) deficiency. Br J Haematol 43:465–467, 1979.
glucose-6-phosphate dehydrogenase. Nat Cell Biol 13:310–316, 2011. 584. Beutler E, Mitchell M: Special modifications of the fluorescent screening method for
551. Hecker PA, Leopold JA, Gupte SA, et al: Impact of glucose-6-phosphate dehydrogenase glucose-6-phosphate dehydrogenase deficiency. Blood 32:816–818, 1968.
deficiency on the pathophysiology of cardiovascular disease. Am J Physiol Heart Circ 585. Rijksen G, Veerman AJ, Schipper-Kester GP, et al: Diagnosis of pyruvate kinase defi-
Physiol 304:H491–H500, 2013. ciency in a transfusion-dependent patient with severe hemolytic anemia. Am J Hematol
552. Müller-Soyano A, Tovar de Roura E, Duke PR, et al: Pyruvate kinase deficiency and leg 35:187–193, 1990.
ulcers. Blood 47:807–813, 1976. 586. Herz F, Kaplan E, Scheye ES: Diagnosis of erythrocyte glucose-6-phosphate dehydroge-
553. Curiel CD, Velasquez GA, Papa R: Hemolytic anemia and leg ulcers due to pyruvate nase deficiency in the negro male despite hemolytic crisis. Blood 35:90–93, 1970.
kinase deficiency. Report of the second Venezuelan family. Sangre (Barc) 22:64–77, 587. Ringelhahn B: A simple laboratory procedure for the recognition of A- (African type)
1977. G6PD deficiency in acute haemolytic crisis. Clin Chim Acta 36:272–274, 1972.
554. Dolan LM, Ryan M, Moohan J: Pyruvate kinase deficiency in pregnancy complicated by 588. Beutler E, Yoshida A: X-inactivation in heterozygous G6PD variant females, in
iron overload. BJOG 109:844–846, 2002. Glucose-6-Phosphate Dehydrogenase, pp 405-415. Academic Press, Orlando, FL, 1986.
555. Wax JR, Pinette MG, Cartin A, et al: Pyruvate kinase deficiency complicating preg- 589. Beutler E, Yunis JJ: G6PD activity of individual erythrocytes and X-chromosomal inac-
nancy. Obstet Gynecol 109:553–555, 2007. tivation, in Biochemical Methods in Red Cell Genetics, pp 95–113. Academic Press, New
556. Fanning J, Hinkle RS: Pyruvate kinase deficiency hemolytic anemia: Two successful York, 1969.
pregnancy outcomes. Am J Obstet Gynecol 153:313–314, 1985. 590. Vogels IM, van Noorden CJ, Wolf BH, et al: Cytochemical determination of heterozy-
557. Ferreira P, Morais L, Costa R, et al: Hydrops fetalis associated with erythrocyte pyruvate gous glucose-6-phosphate dehydrogenase deficiency in erythrocytes. Br J Haematol.
kinase deficiency. Eur J Pediatr 159:481–482, 2000. 63:402–405, 1986.
Kaushansky_chapter 47_p0689-0724.indd 721 9/17/15 6:45 PM

