Table 2. Plasma levels of cholesterol and desmosterol in two male healthy carriers (IV1, IV4) of the DHCR24 mutation and their two affected sons (V1, V7).

Individual	Cholesterol (mg/ml)	Desmosterol (mg/ml)	Desmosterol (% of total sterol fraction)
V1	1.3	0.045	3.4
V7	1.1	0.126	10.1
IV1	1.8	0.0011	0.1
IV4	1.5	0.0008	0.1
Control	1.8	0.0007	0.04

According to the literature¹⁷ desmosterol levels in plasma of healthy controls are 0.0005±0.0003 mg/ml.