Congenital methemoglobinemia.
- Author:
Elaine Diane G. Santos
- Publication Type:Journal Article
- Keywords:
cytochrome b5 reductase;
ascorbic acid;
child
- MeSH:
Methemoglobinemia;
Cyanosis
- From:
Journal of the Philippine Medical Association
2018;97(1):33-41
- CountryPhilippines
- Language:English
-
Abstract:
This report a case of a ten-year-old female
with progressive cyanosis and dyspnea on exertion.
Clinical and laboratory work up ruled out a cardiac
and pulmonary pathology warranting further
investigation for possible hemoglobinopathies.
Enzyme assay showed deficiency in cytochrome b5
reductase seen in patients with congenital
methemoglobinemia. Ascorbic acid at 200mg daily
afforded gradual improvement in cyanosis.
- Full text:Congenital methemoglobinemia.pdf
