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Pediatr Hematol Oncol · Jul 2009
Case ReportsA novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.
- Tugba Arikoglu, Nese Yarali, Abdurrahman Kara, Ali Bay, Ikbal O Bozkaya, Bahattin Tunc, and Melanie J Percy.
- Department of Pediatric Hematology, Dr. Sami Ulus Children's Health Education and Research Hospital, Ankara, Turkey.
- Pediatr Hematol Oncol. 2009 Jul 1; 26 (5): 381-5.
AbstractThe 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 examination revealed a methemoglobin level of 19.0%. Sequencing the CYB5R3 gene identified a homozygous T-->C transition at base c.653, which changed codon 218 from leucine to proline (L218P) in cb(5)r protein. Treatment with ascorbic acid relieved the cyanosis and returned methemoglobin levels to normal.
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