Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.6.99.3 (
diaphorase
)
5,903
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Cyanosis was noted within a few weeks after birth in two sisters. On investigation the cause of cyanosis was found to be congenital methaemoglobinaemia due to
NADH diaphorase
deficiency. Heterozygous beta-thalassaemia was present as an additional incidental finding in one of the sisters, but did not contribute to the symptoms, thus showing that the two diseases, when coexistent, do not pose additional haematological problems. However, it is possible that the beta-thalassaemia counteracts the tendency to compensatory
erythrocytosis
induced by methaemoglobinaemia.
...
PMID:Coexisting hereditary methaemoglobinaemia and heterozygous beta-thalassaemia. 291 19
