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); |
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
|
Wildlife On Video »
Canada's Great Outdoors
Tour Canadian Rockies »
Book Banff »
Book Jasper »
Maligne Lake Boat Cruise »
Gondola Banff »
Hike Jasper »
Jasper Columbia Icefield »