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614 Part VI: The Erythrocyte Chapter 41: Folate, Cobalamin, and Megaloblastic Anemias 615

367. Lederle F: Oral cobalamin for pernicious anemia: Back from the verge of extinction. J 400. Rosenblatt D, Hosack A, Matiaszuk N: Expression of transcobalamin II by amniocytes.
Am Geriatr Soc 46(9):1125–1127, 1998. Prenat Diagn 7(1):35–39, 1987.
368. Amess J, Burman J, Rees G, et al: Megaloblastic haemopoiesis in patients receiving 401. Namour F, Olivier J, Abdelmouttaleb I, et al: Transcobalamin codon 259 polymorphism
nitrous oxide. Lancet 2(8085):339–342, 1978. in HT-29 and Caco-2 cells and in Caucasians: Relation to transcobalamin and homo-
369. Kondo H, Osborne M, Kolhouse J, et al: Nitrous oxide has multiple deleterious effects cysteine concentration in blood. Blood 97(4):1092–1098, 2001.
on cobalamin metabolism and causes decreases in activities of both mammalian 402. Miller JW, Ramos MI, Garrod MG, et al: Transcobalamin II 775G>C polymorphism
cobalamin-dependent enzymes in rats. J Clin Invest 67(5):1270–1283, 1981. and indices of vitamin B12 status in healthy older adults. Blood 100(2):718–720, 2002.
370. Lumb M, Sharer N, Deacon R, et al: Effects of nitrous oxide-induced inactivation of 403. McIntyre O, Sullivan L, Jeffries G, Silver R: Pernicious anemia in childhood. N Engl J
cobalamin on methionine and S-adenosylmethionine metabolism in the rat. Biochim Med 272:981–986, 1965.
Biophys Acta 756(3):354–359, 1983. 404. Fowler B: Genetic defects of folate and cobalamin metabolism. Eur J Pediatr 157 Suppl
371. O’Sullivan H, Jennings F, Ward K, et al: Human bone marrow biochemical function 2:S60–S66, 1998.
and megaloblastic hematopoiesis after nitrous oxide anesthesia. Anesthesiology 55(6): 405. Watkins D, Matiaszuk N, Rosenblatt D: Complementation studies in the cblA class of
645–649, 1981. inborn error of cobalamin metabolism: Evidence for interallelic complementation and
372. Skacel P, Hewlett A, Lewis J, et al: Studies on the haemopoietic toxicity of nitrous oxide for a new complementation class (cblH). J Med Genet 37(7):510–513, 2000.
in man. Br J Haematol 53(2):189–200, 1983. 406. Rosenblatt D, Cooper B, Pottier A, et al: Altered vitamin B12 metabolism in fibroblasts
373. Kano Y, Sakamoto S, Sakuraya K, et al: Effects of leucovorin and methylcobalamin with from a patient with megaloblastic anemia and homocystinuria due to a new defect in
N2O anesthesia. J Lab Clin Med 104(5):711–717, 1984. methionine biosynthesis. J Clin Invest 74(6):2149–2156, 1984.
374. Layzer R, Fishman R, Schafer J: Neuropathy following abuse of nitrous oxide. Neurology 407. Leclerc D, Campeau E, Goyette P, et al: Human methionine synthase: CDNA clon-
28(5):504–506, 1978. ing and identification of mutations in patients of the cblG complementation group of
375. Easton D: Severe thrombocytopenia associated with acute folic acid deficiency and folate/cobalamin disorders. Hum Mol Genet 5(12):1867–1874, 1996.
severe hemorrhage in two patients. Can Med Assoc J 130(4):418–420, 422, 1984. 408. Gulati S, Chen Z, Brody L, et al: Defects in auxiliary redox proteins lead to functional
376. Beard M, Hatipov C, Hamer J: Acute onset of folate deficiency in patients under inten- methionine synthase deficiency. J Biol Chem 272(31):19171–19175, 1997.
sive care. Crit Care Med 8(9):500–503, 1980. 409. Watkins D, Rosenblatt DS: Failure of lysosomal release of vitamin B12: A new com-
377. Henderson G, Suresh M, Vitols K, Huennekens F: Transport of folate compounds in plementation group causing methylmalonic aciduria (cblF). Am J Hum Genet 39(3):
L1210 cells: Kinetic evidence that folate influx proceeds via the high-affinity trans- 404–408, 1986.
port system for 5-methyltetrahydrofolate and methotrexate. Cancer Res 46(4 Pt 1): 410. van der Meer S, Spaapen L, Fowler B, et al: Prenatal treatment of a patient with vitamin
1639–1643, 1986. B12-responsive methylmalonic acidemia. J Pediatr 117(6):923–926, 1990.
378. Schoo M, Pristupa Z, Vickers P, Scrimgeour K: Folate analogues as substrates of mam- 411. Erbe R: Inborn errors of folate metabolism (second of two parts). N Engl J Med
malian folylpolyglutamate synthetase. Cancer Res 45(7):3034–3041, 1985. 293(16):807–812, 1975.
379. Huennekens FM, Duffy TH, Pope LE: Biochemistry of methotrexate: Teaching an old 412. Min S, Oh S, Karp G, et al: The clinical course and genetic defect in the PCFT gene in
drug new tricks, in Cancer Biology and Therapeutics edited by Corry JG, Szentivanyi A, a 27-year-old woman with hereditary folate malabsorption. J Pediatr 153(3):435–437,
p 45. Plenum, New York, 1987. 2008.
380. Kesavan V, Sur P, Doig M, et al: Effects of methotrexate on folates in Krebs ascites and 413. Zittoun J: Congenital errors of folate metabolism. Baillieres Clin Haematol 8(3):
L1210 murine leukemia cells. Cancer Lett 30(1):55–59, 1986. 603–616, 1995.
381. Spiegel R, Cooper P, Blum R, et al: Treatment of massive intrathecal methotrexate over- 414. Arakawa T, Narisawa K, Tanno K, et al: Megaloblastic anemia and mental retardation
dose by ventriculolumbar perfusion. N Engl J Med 311(6):386–388, 1984. associated with hyperfolic-acidemia: Probably due to N5 methyltetrahydrofolate trans-
382. Yarchoan R, Broder S: Development of antiretroviral therapy for the acquired immuno- ferase deficiency. Tohoku J Exp Med 93(1):1–22, 1967.
deficiency syndrome and related disorders. A progress report. N Engl J Med 316(9):557– 415. Fox R, Wood M, Royse-Smith D, O’Sullivan W: Hereditary orotic aciduria: Types I and
564, 1987. II. Am J Med 55(6):791–798, 1973.
383. Richman D, Fischl M, Grieco M, et al: The toxicity of azidothymidine (AZT) in the 416. van der Zee S, Schretlen E, Monnens L: Megaloblastic anaemia in the Lesch-Nyhan
treatment of patients with AIDS and AIDS-related complex. A double-blind, placebo- syndrome. Lancet 1(7557):1427, 1968.
controlled trial. N Engl J Med 317(4):192–197, 1987. 417. Bazarbachi A, Muakkit S, Ayas M, et al: Thiamine-responsive myelodysplasia. Br J Hae-
384. Boudes P, Zittoun J, Sobel A: Folate, vitamin B12, and HIV infection. Lancet matol 102(4):1098–1100, 1998.
335(8702):1401–1402, 1990. 418. Boros L, Steinkamp M, Fleming J, et al: Defective RNA ribose synthesis in fibrob-
385. Krakoff I, Brown N, Reichard P: Inhibition of ribonucleoside diphosphate reductase by lasts from patients with thiamine-responsive megaloblastic anemia (TRMA). Blood
hydroxyurea. Cancer Res 28(8):1559–1565, 1968. 102(10):3556–3561, 2003.
386. Termanini B, Gibril F, Sutliff VE, et al: Effect of long-term gastric acid suppressive ther- 419. Zdebska E, Mendek-Czajkowska E, Ploski R, et al: Heterozygosity of CDAN II (HEM-
apy on serum vitamin B12 levels in patients with Zollinger-Ellison syndrome. Am J Med PAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates
104(5):422–430, 1998. from healthy carriers. Haematologica 87(2):126–130, 2002.
387. Koop H, Bachem M: Serum iron, ferritin, and vitamin B12 during prolonged omepra- 420. Maeda K, Saeed S, Rebuck J, Monto R: Type I dyserythropoietic anemia. A 30-year
zole therapy. J Clin Gastroenterol 14(4):288–292, 1992. follow-up. Am J Clin Pathol 73(3):433–438, 1980.
388. Rosenblatt DS: Inherited disorders of folate and cobalamin transport and metabolism 421. Wickramasinghe S, Parry T, Williams C, et al: A new case of congenital dyserythropoi-
in The Metabolic and Molecular bases of Inherited Metabolic Disease, 8th ed, edited by etic anaemia, type III: Studies of the cell cycle distribution and ultrastructure of ery-
Fenton WA, p 3897. McGraw-Hill, New York, 2001. throblasts and of nucleic acid synthesis in marrow cells. J Clin Pathol 35(10):1103–1109,
389. Whitehead V: Acquired and inherited disorders of cobalamin and folate in children. Br 1982.
J Haematol 134(2):125–136, 2006. 422. Najfeld V, McArthur J, Shashaty G: Monosomy 7 in a patient with pancytopenia and
390. Grasbeck R, Gordin R, Kantero I, Kuhlback B: Selective vitamin B12 malabsorption abnormal erythropoiesis. Acta Haematol 66(1):12–18, 1981.
and proteinuria in young people. A syndrome. Acta Med Scand 167:289–296, 1960. 423. Camaschella C: Recent advances in the understanding of inherited sideroblastic
391. Zimran A, Hershko C: The changing pattern of megaloblastic anemia: Megaloblastic anaemia. Br J Haematol 143(1):27–38, 2008.
anemia in Israel. Am J Clin Nutr 37(5):855–861, 1983. 424. Roggli V, Saleem A: Erythroleukemia: A study of 15 cases and literature review. Cancer
392. Aminoff M, Carter J, Chadwick R, et al: Mutations in CUBN, encoding the intrinsic 49(1):101–108, 1982.
factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat 425. Matherly LH, Barlowe CK, Phillips VM, Goldman ID: The Effects on 4-aminoanti-
Genet 21(3):309–313, 1999. folates on 5-formyltetrahydrofolate metabolism in L1210 cells—A biochemical basis of
393. He Q, Madsen M, Kilkenney A, et al: Amnionless function is required for cubilin the selectivity of leucovorin rescue. J Biol Chem 262(2):710–717, 1987.
brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in 426. Magee F, O’Sullivan H, McCann SR: Megaloblastosis and low-dose trimethoprim-
vivo. Blood 106(4):1447–1453, 2005. sulfamethoxazole. Ann Intern Med 95(5):657, 1981.
394. Carmel R: Gastric juice in congenital pernicious anemia contains no immunoreactive 427. Spector I, Green R, Bowes D, et al: Trimethoprim-sulphamethoxazole therapy and
intrinsic factor molecule: Study of three kindreds with variable ages at presentation, folate nutrition. S Afr Med J 1973;47(28):1230–1232, 1981.
including a patient first diagnosed in adulthood. Am J Hum Genet 35(1):67–77, 1983. 428. Swinson CM, Perry J, Lumb M, Levi AJ: Role of Sulphasalazine in the etiology of
395. Cooper B, Rosenblatt D: Inherited defects of vitamin B12 metabolism. Annu Rev Nutr folate-deficiency in ulcerative-colitis. Gut 22(6):456–461, 1981.
7:291–320, 1987. 429. Boots M, Phillips M, Curtis JR: Megaloblastic anemia and pancytopenia due to progua-
396. Miller D, Bloom G, Streiff R, et al: Juvenile “congenital” pernicious anemia. Clinical and nil in patients with chronic renal failure. Clin Nephrol 18(2):106–108, 1982.
immunologic studies. N Engl J Med 275(18):978–983, 1966. 430. Fossella FV: Pemetrexed for treatment of advanced non-small cell lung cancer. Semin
397. Thomas P, Hoffbrand A, Smith I: Neurological involvement in hereditary transcobala- Oncol 31(1 Suppl 1):100–105, 2004.
min II deficiency. J Neurol Neurosurg Psychiatry 45(1):74–77, 1982. 431. Bethell FH, Thompson DS: Treatment of leukemia and related disorders with
398. Carmel R, Green R, Rosenblatt D, Watkins D: Update on cobalamin, folate, and homo- 6-mercaptopurine. Ann N Y Acad Sci 60(2):436–438, 1954.
cysteine. Hematology Am Soc Hematol Educ Program 62–81, 2003. 432. Christoph R, Pirnay D, Hartl W: [Megaloblastic anemia following treatment of rheuma-
399. Barshop B, Wolff J, Nyhan W, et al: Transcobalamin II deficiency presenting with meth- toid arthritis with azathioprine] [in German]. Med Welt 46:1824–1827, 1971.
ylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J 433. Klippel JH, Decker JL: Relative macrocytosis in cyclophosphamide and azathioprine
Med Genet 35(2):222–228, 1990. therapy. JAMA 229(2):180–181, 1974.

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