Cholesterol monooxygenase (side-chain cleaving) deficiency

Common Name(s)

Cholesterol monooxygenase (side-chain cleaving) deficiency

Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by {12:Lin et al., 1991} and {4:Bose et al., 1996}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cholesterol monooxygenase (side-chain cleaving) deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cholesterol monooxygenase (side-chain cleaving) deficiency" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cholesterol monooxygenase (side-chain cleaving) deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.