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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Inborn error in the terminal step of aldosterone biosynthesis. Corticosterone methyl oxidase tpe II deficiency in a North American pedigree.

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.[1]

References

  1. Inborn error in the terminal step of aldosterone biosynthesis. Corticosterone methyl oxidase tpe II deficiency in a North American pedigree. Veldhuis, J.D., Kulin, H.E., Santen, R.J., Wilson, T.E., Melby, J.C. N. Engl. J. Med. (1980) [Pubmed]
 
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