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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
18-oxidase deficiency

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Description

Type II corticosterone methyloxidase deficiency is a rare genetic disorder caused by a mutation in the CYP11B2 gene. This gene is responsible for the production of an enzyme called corticosterone methyloxidase (CMO). CMO is responsible for the conversion of corticosterone, a hormone produced by the adrenal glands, into aldosterone, another hormone that helps regulate blood pressure and electrolyte balance. People with Type II corticosterone methyloxidase deficiency have a mutation in the CYP11B2 gene that prevents the production of CMO, leading to a buildup of corticosterone in the body. Symptoms of this disorder can include low blood pressure, salt craving, and low potassium levels. Treatment typically involves taking medications to reduce the amount of corticosterone in the body.

Synonyms
  • aldosterone deficiency II
  • CMO II deficiency
  • familial hyperreninemic hypoaldosteronism 1B
  • FHHA1B
  • steroid 18-oxidase deficiency
  • Type II corticosterone methyloxidase deficiency
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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