NADH cytochrome b
5 reductase in erythrocytes, granulocytes, lymphocytes and platelets was investigated in two siblings with hereditary methemoglobinemia and in their parents.
NADH cytochrome b
5 reductase levels were markedly low in the erythrocytes derived from the propositus and her brother. Based on the findings that the NADH cytochrome b
5 reductase abnormality was limited to thye erthrocytes (erythrocyte type), it was suspected that the mental development of these patients should be normal. A follow-up study on their mental development was carried out in order to confirm whether or not this was true. At present, the propositus, who is 2 years and 11 monts old, and her brother, who is 3 years and 10 months old, have developed without any signs of mental retardation.
These findings indicate that the determination of the type of NADH cytochrome b
5 reductase abnormality (erythrocyte type or generalized type) might be useful in anticipating the complication of mental retardation in hereditary methemoglobinemia.
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