Article
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.
Pediatric hematology and oncology - 1 Jan 2000
Arikoglu Tugba, Yarali Nese, Kara Abdurrahman, Bay Ali, Bozkaya Ikbal O, Tunc Bahattin, Percy Melanie J
Abstract excerpt
The presence of central cyanosis that is unrelated to cardiopulmonary causes alerts clinicians to a possible diagnosis of methemoglobinemia. Congenital methemoglobinemia due to deficiency of nicotinamide-adenine dinucleotide (NADH)-cytochrome b5 reductase (cb(5)r) is an autosomal recessive disorder characterized by life long cyanosis. Here we report a six-year old boy who presented with central cyanosis and upon...
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