Pitfalls in the Diagnosis of Wilson Disease

• Published in: Current neurology and neuroscience reports Vol. 25; no. 1; p. 40
• Main Authors: Roy, Debasish, Mukherjee, Angshuman, Chakravarty, Ambar
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.12.2025; Springer Nature B.V
• Subjects: Adenosine Triphosphatases - genetics; Asymptomatic; ATP7B gene; Biopsy; Cation Transport Proteins - genetics; Ceruloplasmin; Chelating agents; Chromosome 13; Copper; Copper - metabolism; Copper-Transporting ATPases; Diagnosis; Exons; Genetic variability; Hepatolenticular Degeneration - diagnosis; Hepatolenticular Degeneration - genetics; Hereditary diseases; Humans; Introns; Liver diseases; Liver transplantation; Medicine; Medicine & Public Health; Mental disorders; Mutation; Mutation - genetics; Neurology; Neurosciences; Patients; Phenotypes; Review; Topical Collection on Neurology of Systemic Disease; Wilson's disease; Ceruloplasmin; MRI in Wilson disease; Wilson disease; Neurological pitfalls; Serum copper; Genetics; Urinary copper excretion

Purpose of Review Wilson disease (WD), an uncommon autosomal recessive (AR) hereditary disorder characterized by abnormal accumulation of copper primarily in the liver and secondarily in other organs like the brain, is caused by a deficiency in the ATP7B transporter gene. The key to successful thera...