The psychopharmacology of Wilson disease and other metabolic disorders

Handb Clin Neurol. 2019:165:191-205. doi: 10.1016/B978-0-444-64012-3.00011-3.


Wilson disease (WD) is a hereditary metabolic disorder (HMD) caused by a mutation in the copper-transporting gene ATP7B affecting the liver and central nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and management can be difficult. More generally, HMDs are a rare but important cause of psychiatric disorders in adolescents and adults. Main signs of HMDs may remain isolated for years before the appearance of hepatic or neurologic signs. The incidence of HMDs has been estimated at approximately 40 cases per 100,000 live births. Some of them are treatable and new diagnostic methods and therapies have become available. HMDs that present purely with psychiatric symptoms are very difficult to diagnose due to low awareness of these rare diseases among psychiatrists and neurologists. However, it is important to identify HMDs in order to provide disease-specific treatment and possible prevention of irreversible physical and neurologic complications. Genetic counseling can also be provided. Psychotropic medications should be prescribed carefully in that indication. This chapter focuses on three HMD categories: chronic, treatable HMDs (e.g., WD); acute, treatable HMDs; and chronic HMDs that are difficult to treat. In this review we focus on the psychopharmacology of WD and other chronic and difficult-to-treat HMDs. We provide some keys to take into account the main side effects associated with common psychotropic medications.

Keywords: Cerebrotendinous xanthomatosis; Cystathionine-beta-synthase (CbS) deficiency; Differential diagnosis; Hereditary metabolic disorder; Niemann-Pick disease type C; Organic psychosis; Remethylation disorder; Urea cycle disorders; Wilson disease.

Publication types

  • Review

MeSH terms

  • Genetic Counseling / methods
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / metabolism*
  • Hepatolenticular Degeneration / therapy*
  • Humans
  • Metabolic Diseases / diagnosis
  • Metabolic Diseases / metabolism*
  • Metabolic Diseases / therapy*
  • Psychopharmacology
  • Psychotropic Drugs / therapeutic use*


  • Psychotropic Drugs