Cholesterol Biosynthesis

Question 1

Mevalonic aciduria

Answer 1

PRE-SQUALENE PATHWAY

Deficiency of Mevalonate kinase
recurrent fever (onset in infancy)
enlarged liver, spleen

Question 2

Smith-Lemli-Opitz Syndrome (SLOS)

Answer 2

most common
POST SQUALENE

syndactylyl of 2nd & 3rd toes

deficiency of 7DHCR!!!!

Question 3

CHILD syndrome

Answer 3

sharp line of demarcation thru midline
ichthyosiform erythroderma (scaly skin, thick, dry)

lack of 3Beta-hydroxysterol DH