Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease

Both existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson ’s Disease (WD) often creating ambiguities in patient identification leading to delayed diagnosis and ineffective management. ATP7B protein concentration, indicated by direct measurement of surrogate peptides from patient dried blood spot (DBS) samples, could provide primary evidence of WD. ATP7B concentrations were measured in patient samples from diverse backgrounds, diagnostic potential is determined, and results are compared to biochemical and genetic results from individual patients.

Source: Gastroenterology - February 25, 2021 Category: Gastroenterology Authors: Christopher J. Collins, Fan Yi, Remwilyn Dayuha, Phi Duong, Simon Horslen, Michelle Camarata, Ayse K. Coskun, Roderick H.J. Houwen, Tudor L. Pop, Heinz Zoller, Han-wook Yoo, Sung Won Jung, Karl H. Weiss, Michael L. Schilsky, Peter Ferenci, Sihoun Hahn Source Type: research