TURKISH JOURNAL OF PEDIATRICS, vol.58, no.1, pp.113-115, 2016 (SCI-Expanded)
Article / Article
TURKISH JOURNAL OF PEDIATRICS
Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
recessive congenital methemoglobinemia, immediate generations, Arg50Gln mutation, Turkish patient, REDUCTASE DEFICIENCY, GENE
Gazi University Affiliated:
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.