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Methemoglobinemia

Symptoms: In patients with type 2 congenital cytochrome b5 reductase deficiency: mental retardation, developmental delay, failure to thrive. They may also have seizures and other neurologic problems. Most die in infancy. In most patients with congenital methemoglobinemia (type 1): a bluish discoloration to the skin and mucous membranes. In patients with acquired methemoglobinemia from chemical or drug exposure: headache, fatigue, shortness of breath, lack of energy, and potentially shock, seizures, and death. Signs and tests: Cyanosis (bluish skin color) with a normal level of oxygen in the blood (Pa02 on blood gas) Abnormal color optical spectrum of hemoglobin Incubation of blood with methylene blue is used to differentiate between cytochrome b5R deficiency and Hemoglobin M disease

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