Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian case

Nouv Rev Fr Hematol (1978). 1989;31(5):371-3.

Abstract

During investigation of chronic cyanosis in a 25 year old male, after excluding pulmonary and cardiac causes, methemoglobinemia was suspected. Investigation of the activity of methemoglobin reductase clenched the diagnosis of homozygous cytochrome b5 reductase deficiency in a case of recessive congenital methemoglobin type I (absence of neurologic symptoms).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cyanosis / congenital*
  • Cyanosis / enzymology
  • Cytochrome Reductases
  • Cytochrome-B(5) Reductase / deficiency*
  • Homozygote
  • Humans
  • Male
  • NADH, NADPH Oxidoreductases
  • Tunisia

Substances

  • NADH, NADPH Oxidoreductases
  • Cytochrome Reductases
  • Cytochrome-B(5) Reductase