Inborn errors of aldosterone biosynthesis in humans.

doi:10.1016/0039-128x(94)00023-6

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Article

Inborn errors of aldosterone biosynthesis in humans.

Steroids - 1 Jan 1995

Shizuta Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Rösler A, Ulick S, Imura H

Abstract excerpt

Corticosterone methyl oxidase (CMO) type I and type II deficiencies are inborn errors at the penultimate and ultimate steps in the biosynthesis of aldosterone in humans. Recently, steroid 18-hydroxylase (P450C18), or aldosterone synthase (P450aldo), was shown to be a multifunctional enzyme cataly...

Topics

Adrenal Hyperplasia, Congenital
Aldosterone
Amino Acid Sequence
Base Sequence
Cytochrome P-450 CYP11B2
Cytochrome P-450 Enzyme System
Humans
Metabolism, Inborn Errors
Mixed Function Oxygenases
Molecular Sequence Data
Mutation

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