Corticosterone Methyloxidase Deficiency

Summarized by Plex Health
Last Updated: 03 May 2022

Corticosterone methyloxidase deficiency, referred to as aldosterone synthase deficiency, is a disorder identified by excessive quantities of sodium launched in the urine, in addition to not enough release of potassium in the urine, usually beginning in the first couple of weeks of life. Individuals with corticosterone methyloxidase deficiency can have high levels of acid in the blood. Serious cases of corticosterone methyloxidase deficiency can cause seizures and coma and can be life-threatening. Affected individuals who make it through infancy usually have a normal life expectancy, and the signs and symptoms of the disorder commonly end up being milder or disappear by their adult years.

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