20,22-desmolase deficiency

20,22-desmolase deficiency

Congenital adrenal hyperplasia, type I (OMIM:201710); both terms continue to be used. The term P-450scc deficiency is also popular, given that conversion of cholesterol to pregnenolone requires 20-hydroxylation, 22-hydroxylation and cleavage of the C20-C22 bond, all three steps of which are mediated by the P-450scc enzyme, EC 1.14.15.67.
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