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New method helps diagnose neurological disorder that requires early treatment – Niemann-Pick disease type C

Researchers have developed a quick and simple method for measuring bile acids in biological fluids that can be used to rapidly diagnosis a severe fat storage disorder that can lead to liver disease in infancy and neurological dysfunction starting in childhood or early adult life.

Early diagnosis and treatment of the disorder, called Niemann-Pick disease type C, are critical to limit neurological damage.

“We hope that the availability of a test that is quick and simple, both for the clinician and the laboratory, will ensure that testing is undertaken at the first signs of a problem so the diagnosis will be made more quickly,” said Dr. Peter Clayton, senior author of the FEBS Letters article.

Article: Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease, Mazzacuva, F., Mills, P., Mills, K., Camuzeaux, S., Gissen, P., Nicoli, E.-R., Wassif, C., te Vruchte, D., Porter, F. D., Maekawa, M., Mano, N., Iida, T., Platt, F. and Clayton, P. T., FEBS Letters, doi:10.1002/1873-3468.12196, published online 3 May 2016.