Cholesterol Synthesis Flashcards
1
Q
Smith Lemli Optiz Syndrome (SLOS)
A
Cause: Deficiency in 7-Dehydrocholesterol-7-Reductase Enzyme
Result: Cannot make Cholesterol (Lansterol > Cholesterol step)
Sx: Growth & mental retardation (microcephaly, IQ 20-40), Ambiguous genitalia in males, limb & heart retardation
Tx: Administering cholesterol helps with growth pathologies but not CNS because cholesterol cannot cross Blood-Brain Barrier
