Cholesterol synthesis

Question 1

Smith-Lemli-Optiz Syndrome (SLOS)

Answer 1

• 7-Dehydrocholsterol-7-reductase deficiency
• Sx:
  
  • heart defects
  • malformation of limbs
  • growth retardation
  • microcephaly
  • mental retardation (IQ 20 to 40)
  • males with ambiguous genitalia
• Rx: cholesterol admin helps with growth but not CNS defects due to embryonic microcephaly
  *