Methemoglobinemia

Definition:

Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency.

References:

[1]. A Mansouri, et al. Concise review: methemoglobinemia. Am J Hematol. 1993 Jan;42(1):7-12. [Content Brief]

[2]. C Ewenczyk, et al. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. Brain. 2008 Mar;131(Pt 3):760-1. [Content Brief]

[3]. Melanie J Percy, et al. Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency. Br J Haematol. 2008 May;141(3):298-308. [Content Brief]

[4]. S J Giordano, et al. A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. Hum Genet. 1994 May;93(5):568-70. [Content Brief]

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