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Congenital Methemoglobinemia in the Newborn Period FREE

MARK S. DINE, M.D.
[+] Author Affiliations

Submitted for publication Feb. 4, 1956.

References 1 and 2.

References 3-5.

Serotyping was carried out by Lieut. Col. Joseph H. Akeroyd (MSC), Asst. Chief, Dept. of Hematology, Army Medical Service Graduate School, Walter Reed Army Medical Center, Washington, D. C.

Methemoglobin determinations were done by the spectrophotometric method described by Evelyn and Malloy7 and by Hawk, Oser, and Summerson.8 The tests were performed by Miss Addelia Peterson, M. T., Supervisory Chemist, Chemistry Dept., Fourth Army Area Laboratory, Fort Sam Houston, Texas.


AMA Am J Dis Child. 1956;92(1):15-19. doi:10.1001/archpedi.1956.02060030017005.
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Congenital or idiopathic methemoglobinemia is an inborn error of metabolism which may or may not be familial. In this condition 20% to 40% of the hemoglobin is in the methemoglobin form, in contrast to the normal values of 0.01% to 1.8%* The enzyme system which regulates the balance between hemoglobin containing iron in the ferrous state and methemoglobin containing iron in the ferric state is disturbed.† A lavender blue cyanosis is the most marked clinical feature of the disease and usually is present in varying degrees from infancy. The administration of reducing substances, such as methylene blue or ascorbic acid, decreases the amount of methemoglobin. Hence, this feature is of value in differentiating between methemoglobinemia and cyanotic congenital heart disease.6 The two cases presented demonstrate the importance of early diagnosis for the prevention of hypoxia and death. These are the first recorded cases of congenital methemoglobinemia diagnosed and treated

REFERENCES

Paul, W. D., and Kemp, C. R.:  Methemoglobin: A Normal Constituent of Blood , Proc. Soc. Exp. Biol. & Med. 56:55 ( (May) ) 1944;.
Bodansky, M., and Bodansky, O.: The Biochemistry of Disease , Ed. 2, New York, The Macmillan Company, 1952;, p. 75.
Gibson, Q. H.:  The Reduction of Methaemoglobin in Red Blood Cells and Studies on the Cause of Idiopathic Methaemoglobinaemia , Biochem. J. 42:13, 1948;.
Eder, H. A.; Finch, C., and McKee, R. W.:  Congenital Methemoglobinemia: A Clinical and Biochemical Study of a Case , J. Clin. Invest. 28: 265 ( (March) ) 1949;.
Waisman, H. A.; Bain, J. A.; Richmond, J. B., and Munsey, F. A.:  Laboratory and Clinical Studies in Congenital Methemoglobinemia , Pediatrics 10:293 ( (Sept.) ) 1952;.
Gasul, B. M.; Fell, E. H.; Casas, R., and Pereiras, R.:  Congenital Methemoglobinemia Simulating Tricuspid Atresia: Report of a Case , J. A. M. A. 149:258 ( (May 17) ) 1952;.
Evelyn, K. A., and Malloy, H. T.:  Microdetermination of Oxyhemoglobin, Methemoglobin, and Sulfhemoglobin in a Single Sample of Blood , J. Biol. Chem. 126:655 ( (Dec.) ) 1938;.
Hawk, P. B.; Oser, B. L., and Summerson, W. H.: Practical Physiological Chemistry , Ed. 12, New York, The Blakiston Company, 1947;, pp. 447 and 651.
Finch, C. A.:  Medical Progress: Methemoglobinemia and Sulfhemoglobinemia , New England J. Med. 239:470 ( (Sept. 23) ) 1948;.
King, E. J.; White, J. C., and Gilchrist, M.:  A Case of Idiopathic Methaemoglobinaemia Treated by Ascorbic Acid and Methylene Blue , J. Path. & Bact. 59:181 ( (Jan.) -April) 1947;.
Comly, H. H.:  Cyanosis in Infants Caused by Nitrates in Well Water , J. A. M. A. 129:112 ( (Sept. 8) ) 1945;.
Zeligs, M.:  Aniline and Nitrobenzene Poisoning in Infants , Arch. Pediat. 46:502 ( (Aug.) ) 1929;.
Howarth, B. E.:  Epidemic of Aniline Methaemoglobinaemia in Newborn Babies , Lancet 1:934 ( (April 28) ) 1951;.
Finch, E., and Lorber, J.:  Methaemoglobinaemia in the Newborn: Probably Due to Phenytoin Excreted in Human Milk , J. Obst. & Gynaec. Brit. Emp. 61:833 ( (Dec.) ) 1954;.
Goluboff, N., and MacFadyen, D. J.:  Methemoglobinemia in an Infant: Associated with Application of a Tar-Benzocaine Ointment , J. Pediat. 47:222 ( (Aug.) ) 1955;.
Sievers, R. F., and Ryon, J. B.:  Congenital Idiopathic Methemoglobinemia: Favorable Response to Ascorbic Acid Therapy , Arch. Int. Med. 76:299 ( (Nov.) -Dec.) 1945;.
Codounis, A.:  Hereditary Methaemoglobinaemic Cyanosis , Brit. M. J. 2:368 ( (Aug. 16) ) 1952;.
Hörlein, H., and Weber, G.:  Über chronische familiäre Methämoglobinämie und eine neue Modifikation des Methämoglobins , Deutsch. med. Wchnschr. 73:476 ( (Oct. 15) ) 1948;.
Worster-Drought, C.; White, J. C., and Sargent, F.:  Familial Idiopathic Methaemoglobinaemia Associated with Mental Deficiency and Neurological Abnormalities , Brit. M. J. 2:114 ( (July 18) ) 1953;.
Baikie, A. G., and Valtis, D. J.:  Gas Transport Function of the Blood in Congenital Familial Methaemoglobinaemia , Brit. M. J. 2:73 ( (July 10) ) 1954;.
Chang, H. Y., and Wu, S. O.:  Congenital Methemoglobinemia , Chinese M. J. 72:153 ( (March) -April) 1954;.
Körver, H.:  Zyanose durch familiäre Methämoglobinämie , Arch. Kinderh. 146:231, 1953;.
Baltzan, D. M., and Sugarman, H.:  Hereditary Cyanosis , Canad. M. A. J. 62:348 ( (April) ) 1950;.
Harris, H.: An Introduction to Human Biochemical Genetics , New York, Cambridge University Press, 1954;.
Nader, J. E.; Green, H., and Rosenbaum, A.:  Intravenous Injection of Methylene Blue in Man with Reference to Its Toxic Symptoms and Effect on the Electrocardiogram , Am. J. M. Sc. 188: 15 ( (July) ) 1934;.
Clark, B. B., and Morrissey, R. W.:  Relation of Methemoglobin to Hemolysis , Blood 6: 532 ( (June) ) 1951;.
Allen, F. H., Jr., and Diamond, L. K.:  Prevention of Kernicterus: Management of Erythroblastosis Fetalis According to Current Knowledge , J. A. M. A. 155:1209 ( (July 31) ) 1954;.

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References

Paul, W. D., and Kemp, C. R.:  Methemoglobin: A Normal Constituent of Blood , Proc. Soc. Exp. Biol. & Med. 56:55 ( (May) ) 1944;.
Bodansky, M., and Bodansky, O.: The Biochemistry of Disease , Ed. 2, New York, The Macmillan Company, 1952;, p. 75.
Gibson, Q. H.:  The Reduction of Methaemoglobin in Red Blood Cells and Studies on the Cause of Idiopathic Methaemoglobinaemia , Biochem. J. 42:13, 1948;.
Eder, H. A.; Finch, C., and McKee, R. W.:  Congenital Methemoglobinemia: A Clinical and Biochemical Study of a Case , J. Clin. Invest. 28: 265 ( (March) ) 1949;.
Waisman, H. A.; Bain, J. A.; Richmond, J. B., and Munsey, F. A.:  Laboratory and Clinical Studies in Congenital Methemoglobinemia , Pediatrics 10:293 ( (Sept.) ) 1952;.
Gasul, B. M.; Fell, E. H.; Casas, R., and Pereiras, R.:  Congenital Methemoglobinemia Simulating Tricuspid Atresia: Report of a Case , J. A. M. A. 149:258 ( (May 17) ) 1952;.
Evelyn, K. A., and Malloy, H. T.:  Microdetermination of Oxyhemoglobin, Methemoglobin, and Sulfhemoglobin in a Single Sample of Blood , J. Biol. Chem. 126:655 ( (Dec.) ) 1938;.
Hawk, P. B.; Oser, B. L., and Summerson, W. H.: Practical Physiological Chemistry , Ed. 12, New York, The Blakiston Company, 1947;, pp. 447 and 651.
Finch, C. A.:  Medical Progress: Methemoglobinemia and Sulfhemoglobinemia , New England J. Med. 239:470 ( (Sept. 23) ) 1948;.
King, E. J.; White, J. C., and Gilchrist, M.:  A Case of Idiopathic Methaemoglobinaemia Treated by Ascorbic Acid and Methylene Blue , J. Path. & Bact. 59:181 ( (Jan.) -April) 1947;.
Comly, H. H.:  Cyanosis in Infants Caused by Nitrates in Well Water , J. A. M. A. 129:112 ( (Sept. 8) ) 1945;.
Zeligs, M.:  Aniline and Nitrobenzene Poisoning in Infants , Arch. Pediat. 46:502 ( (Aug.) ) 1929;.
Howarth, B. E.:  Epidemic of Aniline Methaemoglobinaemia in Newborn Babies , Lancet 1:934 ( (April 28) ) 1951;.
Finch, E., and Lorber, J.:  Methaemoglobinaemia in the Newborn: Probably Due to Phenytoin Excreted in Human Milk , J. Obst. & Gynaec. Brit. Emp. 61:833 ( (Dec.) ) 1954;.
Goluboff, N., and MacFadyen, D. J.:  Methemoglobinemia in an Infant: Associated with Application of a Tar-Benzocaine Ointment , J. Pediat. 47:222 ( (Aug.) ) 1955;.
Sievers, R. F., and Ryon, J. B.:  Congenital Idiopathic Methemoglobinemia: Favorable Response to Ascorbic Acid Therapy , Arch. Int. Med. 76:299 ( (Nov.) -Dec.) 1945;.
Codounis, A.:  Hereditary Methaemoglobinaemic Cyanosis , Brit. M. J. 2:368 ( (Aug. 16) ) 1952;.
Hörlein, H., and Weber, G.:  Über chronische familiäre Methämoglobinämie und eine neue Modifikation des Methämoglobins , Deutsch. med. Wchnschr. 73:476 ( (Oct. 15) ) 1948;.
Worster-Drought, C.; White, J. C., and Sargent, F.:  Familial Idiopathic Methaemoglobinaemia Associated with Mental Deficiency and Neurological Abnormalities , Brit. M. J. 2:114 ( (July 18) ) 1953;.
Baikie, A. G., and Valtis, D. J.:  Gas Transport Function of the Blood in Congenital Familial Methaemoglobinaemia , Brit. M. J. 2:73 ( (July 10) ) 1954;.
Chang, H. Y., and Wu, S. O.:  Congenital Methemoglobinemia , Chinese M. J. 72:153 ( (March) -April) 1954;.
Körver, H.:  Zyanose durch familiäre Methämoglobinämie , Arch. Kinderh. 146:231, 1953;.
Baltzan, D. M., and Sugarman, H.:  Hereditary Cyanosis , Canad. M. A. J. 62:348 ( (April) ) 1950;.
Harris, H.: An Introduction to Human Biochemical Genetics , New York, Cambridge University Press, 1954;.
Nader, J. E.; Green, H., and Rosenbaum, A.:  Intravenous Injection of Methylene Blue in Man with Reference to Its Toxic Symptoms and Effect on the Electrocardiogram , Am. J. M. Sc. 188: 15 ( (July) ) 1934;.
Clark, B. B., and Morrissey, R. W.:  Relation of Methemoglobin to Hemolysis , Blood 6: 532 ( (June) ) 1951;.
Allen, F. H., Jr., and Diamond, L. K.:  Prevention of Kernicterus: Management of Erythroblastosis Fetalis According to Current Knowledge , J. A. M. A. 155:1209 ( (July 31) ) 1954;.

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