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Article

The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone.

The Journal of clinical endocrinology and metabolism - 1 Jun 1992

Ulick S, Wang J Z, Morton D H

Abstract excerpt

Two inborn errors in the methyl oxidation of corticosterone to form aldosterone correspond to the two oxygenation-hydroxylation reactions required for this transformation. Both defects are characterized by overproduction of corticosterone of glomerulosa zone origin and deficient synthesis of aldosterone. In the type 1 corticosterone methyl oxidase defect (CMO I) impairment in the first step is reflected in...

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Identifiers

PMID: 1592889
DOI: 10.1210/jcem.74.6.1592889

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone.PMID 1592889Read ↗

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Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.Semantic proximity Read ↗

Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.Semantic proximity Read ↗

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.Semantic proximity Read ↗

Disorders of steroid 11 beta-hydroxylase isozymes.Semantic proximity Read ↗

Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.Semantic proximity Read ↗

The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone.Semantic proximity Read ↗

[Variability of corticosterone methyl oxidase (type II) deficiency. Presentation of three case reports].Semantic proximity Read ↗

Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.Semantic proximity Read ↗

Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.Semantic proximity Read ↗

Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.Semantic proximity Read ↗

Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2.Semantic proximity Read ↗

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