Steroid Metabolism, Inborn Errors
| Definition: |
Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. |
| Notes: |
coord IM with specific steriod/metab (IM); |
Steroid Metabolism, Inborn Errors Categories.
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Mineralocorticoid Excess Syndrome, Apparent - A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS. |
Steroid Metabolism, Inborn Errors Definitions and Terms
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