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

Johannes D Veldhuis, H. E. Kulin, R. J. Santen, T. E. Wilson, J. C. Melby

Research output: Contribution to journalArticle

45 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)117-121
Number of pages5
JournalNew England Journal of Medicine
Volume303
Issue number3
StatePublished - 1980
Externally publishedYes

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Pedigree
Aldosterone
Salts
18-Hydroxycorticosterone
Hydroxysteroids
Hydrocortisone
corticosterone methyl oxidase II
Enzymes
Serum

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Inborn error in the terminal step of aldosterone biosynthesis. Corticosterone methyl oxidase type II deficiency in a North American pedigree. / Veldhuis, Johannes D; Kulin, H. E.; Santen, R. J.; Wilson, T. E.; Melby, J. C.

In: New England Journal of Medicine, Vol. 303, No. 3, 1980, p. 117-121.

Research output: Contribution to journalArticle

Veldhuis, Johannes D ; Kulin, H. E. ; Santen, R. J. ; Wilson, T. E. ; Melby, J. C. / Inborn error in the terminal step of aldosterone biosynthesis. Corticosterone methyl oxidase type II deficiency in a North American pedigree. In: New England Journal of Medicine. 1980 ; Vol. 303, No. 3. pp. 117-121.
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