Recessive congenital methemoglobinemia in immediate generations

Abstract

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