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Congenital Methemoglobinemia in the Newborn Period

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


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