Hereditary Methemoglobinemia Due to Cytochrome b5 Reductase Deficiency
Keywords:
Hereditary methemoglobinemia, Cytochrome b5 reductase deficiency, Central cyanosisAbstract
Abstract : We report a boy with chronic central cyanosis since birth. He was otherwise asymptomatic with chocolate brown color of blood. Methemoglobinemia was suspected after exclusion of the cardiac and pulmonary diseases. Hereditary methemoglobinemia was considered by his clinical course. The simple bedside procedure could be performed to determine methemoglobinemia by
vigorous shaking his blood with oxygen and observing the same chocolate brown in color. Spectrophotometer could be used to confirm this condition by measuring the change in optical density at 630 nm. Cytochrome b5 reductase deficiency was diagnosed by using a simple spot screening test of the enzymatic activity. The patient was treated by the administration of ascorbic acid with
reducing of cyanosis and methemoglobin level. Although hereditary enzymopenic methemoglobinemia is a rare autosomal recessive disorder. This disease should be considered in the patient with chronic asymptomatic cyanosis even no history of consanguinity.
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References
Burn HF. Human hemogiobins : normal and abnormal. In : Nathan DG, Orkin SH, eds. Nathan and Oski's Hematology of infancy and childhood. 5" ed. Philadelphia : W.B. Sainders company, 1998:729-61.
Beutler E. Methemoglobinemia and other causes of cyanosis. In : Beutler E, Lichtman MA, Coller BS, Kipps TJ, eds. Williams Hematology. 5th ed. New York: McGraw-Hill Ino. 1995:654-63.
วรวรรณ ตันไพจิตร. Methemogiobinemia. ใน : มนตรี ตู้จินดา, วินัย สุวัตถี, อรุณ วงษ์จิราษฎร์, ประอร ชวลิตธำรง, พิภพ จิรภิญโญ, บรรณาธิการ. ตำรากุมารเวชศาสตร์เล่ม 2. กรุงเทพมหานคร : โรงพิมพ์เรือนแก้วการพิมพ์, 2541:1484-90.
Tanphaichitr VS, Mahasandana C, Pung-ammritt P, et al. Type I and Il hereditary methemoglobinemia due to NADH - cytochrome 65 reductase defioienoy in Thai patients. Int Med 1997;13:81-5.
Smithies O. An improved procedure for starch gel electrophoresis : further variation in serum proteins of normal individuals. Biochem J 1959,71:585-7.
Marengo-Row AJ. Rapid eleotrophoresis and quantitation of hemoglobin on cellulose acetate. J Clin Pathol 1965;18.790-2
WHO. Report of WHO Scientifio group. Standardization of procedures for the study of glucose - 6 - phosphate dehydrogenase. WHO Tech Rep Ser 1967;366:5-53.
Evelyn KA, Malloy HT. Microdetermination of oxyhemogrobin, methemoglobin, and sulfhemoglobin in a single sample of blood. J Biol Chem 1938;126:655-62.
Drabkin DL, Austin JH. Spectrophotometric studies I, preparation from washed blood cells : nitrio oxide hemoglobin and sulfhemoglobin. J Biol chem. 1936;112:51.
Kaplan JC, Nicolas AM, Hanzlickova - Leroux A, Beutler E. A simple spot screening test for fast detection of red oell NADH - Diaphorase deficiency. Blood 1970;36:330-3.
Tanishima K, Tomoda A, Yoneyama Y, Ohkuwa H. Three types of hereditary methemoglobinemia due to NADH - cytochrome b5 reductase defioiency. Adv Clin Enzymol 1987;5:81.
Higasa K, Manabe JI, Yubisui T, et al. Molecular basis of hereditary methemoglobinemia, type I and Il : two novel mutations in the NADH - cytochrome 65 reductase gene. Br J. Haematol 1998;103:922-30.
Yubisui T, Takeshita M. Characterization of the purified NADH - cytochrome 65 reductase of human erythrocyte as a FAD - containing enzyme. J Biol Chem 1980 2552454-6.
Shotelersuk V, Tosukhowong P, Chotivitayatarakomn P, Pongpunlert W. A thai boy with hereditary enzymopenio methemogiobinemia type I. J Med Assoo Thai 2000;83:1380-6
Lister G, Fontan JP. Pediatric critical care. In : Behman RE, Kliegman R, Arvin AM, eds. Nelson Textbook of Pediatzios. 15 ed. Philadelphia : WB Saunders Company, 1996:239-48
Yeh J. Poisonings. In : Gunn VL, Nechyba C, eds. The Harriet Lane Handbook.16 ed. Philadelphia: Masby, 2002:19-50.
Hirano M, Matsuli T, Tanishima K, et al. Congenital methemoglobinemia due to NADH methemoblobin reduotase deficiency : successful treatment with oral riboflavin. Brit J Haematol 1981,47:353-9.
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