Description
3β,5α,6β-Trihydroxycholanic acid is a metabolite of 5α,6β-dihydroxycholestanol .
1,2 It is increased in dried blood spots from patients with Niemann-Pick disease type C, a neurodegenerative cholesterol-sphingolipid lysosomal storage disorder.
2
References
1. Kikuchi, S., Imai, Y., Suzuoki, Z., et al. Biologic studies of cholestane-3β,5α,6β-triol and its derivatives. III. The metabolic fate and metabolites of cholestane-3β,5α,6β-triol in animals J. Pharmacol. Exp. Ther. 159(2),399-408(1968).
2. Jiang, X., Sidhu, R.S., Mydock-McGrane, L., et al. Development of a bile acid-based newborn screen for Niemann-Pick disease type C Sci. Transl. Med. 8(337),337ra363(2016).
