Catalog

Methaemoglobin reductase deficiency haemoglobinopathy

No MMS code

Link to WHO Definition

Methaemoglobin reductase deficiency haemoglobinopathy – http://id.who.int/icd/entity/403052171

A disease caused by a genetically inherited mutation leading to lack of the enzyme methemoglobin reductase. This disease is characterised by elevated levels of methemoglobin within the blood. This disease may present with cyanosis in homozygous cases. Heterozygous cases present with no clinical abnormalities. Confirmation is by verification of genetic mutation by genetic testing.