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A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.

Blood - 15 May 2000

Wang Y, Wu Y S, Zheng P Z, Yang W X, Fang G A, Tang Y C, Xie F, Lan F H, Zhu Z Y

Abstract excerpt

Recessive congenital methemoglobinemia due to nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5R) deficiency is classified into 2 clinical types: type 1 (erythrocyte type) and type 2 (generalized type). We found a Chinese family with type 1 recessive congenital methemoglobinemia, the patients from which were diagnosed according to clinical symptoms and b5R enzyme activity in the blood cells. To...

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PMID: 10807796

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