Recessive congenital methemoglobinemia in immediate generations


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ASLAN D. , Turkoz-Sucak G., Percy M. J.

TURKISH JOURNAL OF PEDIATRICS, vol.58, no.1, pp.113-115, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.24953/turkjped.2016.01.019
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.113-115
  • Keywords: recessive congenital methemoglobinemia, immediate generations, Arg50Gln mutation, Turkish patient, REDUCTASE DEFICIENCY, GENE

Abstract

We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population.