Comptes rendus des séances de la Société de biologie et de ses filiales
-
C. R. Seances Soc. Biol. Fil. · Jan 1979
[Clinical and biological forms of cytochrome b5 reductase deficiency].
Twenty-four personal cases of recessive congenital methemoglobinemia (RCM) due to cytochrome b5 reductase deficiency are analysed. They can be divided into two categories: 1) RCM type I, in which cyanosis is the single clinical symptom; 2) RCM type II in which cyanosis is associated with severe mental retardation and bilateral athetosis. ⋯ Different mutations occurring at the same locus might account for this heterogeneity. However the mechanism of brain damage in case of generalized deficiency of cytochrome b5 reductase is still unknown.