Inborn error in the terminal step of aldosterone biosynthesis. Corticosterone methyl oxidase tpe II deficiency in a North American pedigree.
Publication/Presentation Date
7-17-1980
Abstract
Profound salt wasting developed in a male infant who had marked reductions in serum and urinary aldosterone concentrations despite striking hyperreninemia. Coincident elevations in plasma and urinary levels of specific 18-hydroxysteroids localized the defect to corticosterone methyl oxidase Type II, the adrenal enzyme responsible for the final step of aldosterone synthesis. Salt replacement but not hydrocortisone ameliorated the clinical and metabolic abnormalities. Evaluation of 33 other family members disclosed the biochemical disorder in six other subjects who were affected in an autosomal-recessive pattern with variably severe clinical manifestations and abnormal ratios of 18-hydroxycorticosterone (or its metabolites) to aldosterone. This inborn error in aldosterone biosynthesis must be distinguished from other heritable, salt-losing defects in adrenal steroidogenesis.
Volume
303
Issue
3
First Page
117
Last Page
121
ISSN
0028-4793
Published In/Presented At
Veldhuis, J. D., Kulin, H. E., Santen, R. J., Wilson, T. E., & Melby, J. C. (1980). Inborn error in the terminal step of aldosterone biosynthesis. Corticosterone methyl oxidase tpe II deficiency in a North American pedigree. The New England journal of medicine, 303(3), 117–121. https://doi.org/10.1056/NEJM198007173030301
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
6991942
Department(s)
Department of Pediatrics
Document Type
Article