Methemoglobinemia
Alternate Names : Hemoglobin M disease, Erythrocyte reductase deficiency, Generalized reductase deficiency
Symptoms & Signs
Symptoms of type 1 methemoglobinemia (erythrocyte reductase deficiency) include: - Bluish coloring of the skin
Symptoms of type 2 methemoglobinemia (generalized reductase deficiency) include: - Developmental delay
- Failure to thrive
- Mental retardation
- Seizures
Symptoms of hemoglobin M disease include: - Bluish coloring of the skin
Symptoms of acquired methemoglobinemia include: - Bluish coloring of the skin
- Headache
- Fatigue
- Shortness of breath
- Lack of energy
Diagnosis & Tests
Methemoglobinemia can be diagnosed with a blood test. A baby with this condition will have bluish skin color (cyanosis) at birth or shortly thereafter. Arterial blood gases and pulse oximetry results will be normal, making the condition challenging to diagnose.
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