Familial hypoaldosteronism (Q84066): Difference between revisions
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Revision as of 09:25, 15 August 2026
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone) that usually presents in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration).
| Language | Label | Description | Also known as |
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| default for all languages | ID_712299654 |
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| English | Familial hypoaldosteronism |
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone) that usually presents in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). |
