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- Michelle P Hudspeth, Sumy Joseph, and Kenton R Holden.
- Department of Pediatrics, Division of Pediatric Hematology/Oncology, Medical University of South Carolina, Charleston, South Carolina, USA. Hudspeth@musc.edu
- J. Child Neurol. 2010 Jan 1;25(1):91-3.
AbstractType II methemoglobinemia is a somatic deficiency of cytochrome b5 reductase with severe global neurologic impairment. We report a novel mutation in exon 3 of the CYB5R3 gene on chromosome 22 consisting of homozygous 1-base pair (bp) deletion noted as c.215delG; p.Gly72AlafsX100. The patient had improvement of gross motor skills, chewing, and swallowing that may be due to the initiation of daily ascorbic acid therapy. We hypothesize that a possible response to ascorbic acid may be related to the effect of making additional ferrous iron available for its role as a cofactor in carnitine synthesis.
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