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Description

Corticosterone methyloxidase deficiency is a rare genetic disorder caused by a mutation in the CYP11B1 gene. This gene is responsible for producing an enzyme called corticosterone methyloxidase, which is involved in the production of cortisol, a hormone that helps regulate the body's response to stress. People with this disorder have a deficiency of this enzyme, which leads to an inability to produce cortisol. This can cause a variety of symptoms, including fatigue, weight gain, low blood pressure, and increased susceptibility to infections. Treatment typically involves hormone replacement therapy to help regulate cortisol levels.

Synonyms

• aldosterone deficiency I
• CMO I deficiency
• familial hyperreninemic hypoaldosteronism 1A
• FHHA1A
• steroid 18-hydroxylase deficiency
• Type I corticosterone methyloxidase deficiency

Basic Lab Tests (measurements)

• plasma
  •      aldosterone
• serum
  •      sodium
  •      potassium

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: