Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Steroid Metabolism, Inborn Errors Terms and Definitions




Steroid Metabolism, Inborn Errors

Medical Definition: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
Guide Notes: coord IM with specific steriod/metab (IM);
Steroid Metabolism, Inborn Errors Categories.
Canadian Medical Guide Definition 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 Medical Definitions and Terms

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