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

ABSTRACT:

Background & aims

Both existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson disease (WD), often creating ambiguities in patient identification and leading to delayed diagnosis and ineffective management. ATP7B protein concentration, indicated by direct measurement of surrogate peptides from patient dried blood spot 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 with biochemical and genetic results from individual patients.

Methods

Two hundred and sixty-four samples from biorepositories at 3 international and 2 domestic academic centers and 150 normal controls were obtained after Institu

SUBMITTER: Collins CJ 

PROVIDER: S-EPMC8243898 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature