Cholesterol Side-Chain Cleavage Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis.

**Synonyms:** - P450scc Deficiency