Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
Definition
cholesterol side-chain cleavage enzyme convertes cholesterol to pregnenolone in adrenal cortisol synthesis of all steroid hormones. a defect in this enzyme results in in impaired synthesis of all three categories of adrenal steroids (cortisol, mineralocorticoids, sex steroids) and high levels of adrenocorticotropic hormone (acth).
Parent Term
Biochemical pathway
Parent Definition
A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
Other Metabolites Mapped to 'Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH'