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Researchers have developed a quick and simple method for measuring bile acids in biological fluids that can be used to rapidly diagnosis of Niemann-Pick disease type C a severe fat storage disorder that can lead to liver disease in infancy and neurological dysfunction starting in childhood or early adult life.
This paper describes a a rapid UPLC-MS/MS method for measurement of novel bile acids in biological fluids (including dried blood spots) that can be used to facilitate rapid diagnosis of Niemann-Pick disease type C.
Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid) and NPCBA2 (probably 3β,5α,6β-trihydroxycholanoyl-glycine), were observed to accumulate preferentially in NPC patients: median plasma concentrations of NPCBA1 and NPCBA2 were 40- and 10-fold higher in patients than in controls.
However, NPCBA1 concentrations were normal in some patients because they carried a common mutation inactivating the GlcNAc transferase required for the synthesis of this bile acid. NPCBA2, not containing a GlcNAc moiety, is thus a better NPC biomarker.
A prompt diagnosis of NPC is important because, in Europe, a licensed treatment (Miglustat) is available for this disorder and studies on animal models indicate that early treatment offers the best chance of limiting neurological damage. Other treatments for NPC are currently undergoing clinical trials (2-hydroxypropyl-β-cyclodextrin (25), histone deacetylase inhibitors (26) and arimoclomol).
http://onlinelibrary.wiley.com/doi/10.1002/1873-3468.12196/abstract