Pajares et al.[9] also found 7-OC to be elevated in Niemann Pick disease type C (NPC, n = 16, range 178–795 ng/ml, 95% CI), lysosomal acid lipase (LAL) deficiency (n = 3, mean 77.7 ng/ml, range 29.6–178 ng/ml) and Smith-Lemli-Opitz syndrome (SLOS, n = 3). The gene discussed is LIPA; the disease is Smith-Lemli-Opitz syndrome.