Aldosterone synthase deficiency

Definition:

Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. In type I deficiency, aldosterone is undetectable, whereas in type II aldosterone can be low or normal.

References:

[1]. M Peter, et al. Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies. Horm Res. 1999;51(5):211-22. [Content Brief]

[2]. M Wasniewska, et al. Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene. Eur J Endocrinol. 2001 Jan;144(1):59-62. [Content Brief]

[3]. Perrin C White, et al. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol. 2004 Mar 31;217(1-2):81-7. [Content Brief]

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