Article
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 26 Dec 2017
Yau Mabel, Haider Shozeb, Khattab Ahmed, Ling Chen, Mathew Mehr, Zaidi Samir, Bloch Madison, Patel Monica, Ewert Sinead, Abdullah Wafa, Toygar Aysenur, Mudryi Vitalii, Al Badi Maryam, Alzubdi Mouch, Wilson Robert C, Al Azkawi Hanan Said, Ozdemir Hatice Nur, Abu-Amer Wahid, Hertecant Jozef, Razzaghy-Azar Maryam, Funder John W, Al Senani Aisha, Sun Li, Kim Se-Min, Yuen Tony, Zaidi Mone, New Maria I
Abstract excerpt
Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the HSD11B2 gene result either in severe AME or a milder phenotype (type 2 AME). To date, ∼40 causative mutations have been identified. As part of the...
Topics
- 11-beta-Hydroxysteroid Dehydrogenase Type 2
- Adolescent
- Child
- Child, Preschool
- Computer Simulation
- Enzyme Stability
- Female
- Genotype