Enfermedad de la hemoglobina M; Deficiencia de reductasa en eritrocitos; Deficiencia generalizada de reductasa
Los sÃntomas de la metahemoglobinemia tipo 1 (deficiencia de reductasa en eritrocitos) abarcan:
Los sÃntomas de la metahemoglobinemia tipo 2 (deficiencia generalizada de reductasa) abarcan:
Los sÃntomas de la enfermedad de la hemoglobina M abarcan:
Los sÃntomas de la metahemoglobinemia adquirida abarcan:
La metahemoglobinemia se puede diagnosticar con un examen de sangre.
Un bebé que padezca esta afección tendrá una coloración azulada de la piel (cianosis) al nacer o poco después. Los resultados de la gasometrÃa arterial y la oximetrÃa de pulso serán normales, lo cual hace que la afección sea difÃcil de diagnosticar.
Jaffe ER, Hultquist DE. Cytochrome b5 reductase deficiency and enzymopenic hereditary methemoglobinemia. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Basis of Inherited Disease . 7th ed. New York, NY: McGraw-Hill; 1995:2267-2280.
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