Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.

ABSTRACT:

Background

Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATP7B gene. WD is characterized by heterogeneous clinical presentations expressed by hepatic and neuropsychiatric phenotypes. The disease is difficult to diagnose, and misdiagnosed cases are commonly seen.

Methods

In this study, the presented symptoms of WD, the biochemical parameters as well as its natural history are described based on cases collected in Mohammed VI Hospital University of Marrakech (Morocco). We screened and sequenced 21 exons of ATP7B gene from 12 WD patients that confirmed through biochemical diagnosis.

Results

Mutational assessment of the ATP7B gene showed six homozygous mutations in 12 individuals however, 2 patien

SUBMITTER: Lafhal K 

PROVIDER: S-EPMC10267639 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature