Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review

Wilson disease is classically defined as an autosomal recessive disorder of copper metabolism that leads to neurological and hepatic dysfunction. It is one of the most prevalent genetic liver disorders caused by pathogenic mutations in the ATP7B gene, leading to defective copper transport and toxic accumulation in tissues. Without timely diagnosis and appropriate treatment, Wilson disease can progress to life-threatening hepatic failure and severe neurological impairment, ultimately resulting in death. Clinically, Wilson disease exhibits marked phenotypic heterogeneity, presenting with a wide spectrum of hepatic, neurological, and psychiatric symptoms. Differential diagnosis can be complicated by other inherited metabolic disorders with overlapping clinical and biochemical features, collectively referred to as Wilson's mimicry disease. These disorders may contribute to diagnostic uncertainty, potentially delaying the identification of Wilson disease and timely initiation of effective therapy. In this review, we collated pertinent information on Wilson disease and its related differential diagnoses based on a broad review of the scientific literature. Our findings highlight disorders that closely mimic Wilson disease clinically and biochemically, outlining their distinguishing clinical, biochemical, and genetic features, which can be differentiated through specific diagnostic markers and genetic testing. Enhancing awareness and understanding of these entities is essential to improve diagnostic accuracy in pediatric neurology and hepatology.