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. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1

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© Giese et al. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Levels of lyso-SM-509 in patients with NPC1 (n = 110), NP-A/B (n = 21), as well as healthy controls (n = 43) and NPC1 carriers (n = 63) and NP-A/B carriers (n = 5). (A) Lyso-SM-509 allows distinguishing between healthy controls and patients with NPC1. Notably, the biomarker levels are for NP-A/B patients were 3.55-times higher (29.4 ng/ml (IQR: 14.8-40.0). Notably, only in two cases lyso-SM-509 levels above 2.5 ng/ml can be detected in a carrier of a NPC1 mutation and in none of the healthy controls. (B) Levels of lyso-SM-509 in NPC1 by age. Note that Lyso-SM-509 is higher in younger NPC1 patients (ρ = -0.519, p < 0.001), reflecting the severity of early onset disease as shown by Te Vruchte and colleagues (11).