Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian case.
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).
Hafsia
R
R
Hôpital Aziza Othmana, Service d'Hématologie, Tunis, Tunisie.
Meddeb
B
B
Mtimet
B
B
Hafsia
A
A
Galactéros
F
F
Kaplan
J C
JC
Boussen
M
M
D000328:Adult; D003490:Cyanosis / Q000151:congenital* / Q000201:enzymology; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase / Q000172:deficiency*; D006720:Homozygote; D006801:Humans; D008297:Male; D009247:NADH, NADPH Oxidoreductases; D014416:Tunisia
D009247:NADH, NADPH Oxidoreductases; D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase