Diagnosis of wilson disease and its phenotypes by using artificial intelligence

Valentina Medici, Anna Czlonkowska, Tomasz Litwin, Cecilia Giulivi

Research output: Contribution to journalArticlepeer-review


WD is caused by ATP7B variants disrupting copper efflux resulting in excessive copper accumulation mainly in liver and brain. The diagnosis of WD is challenged by its variable clinical course, onset, morbidity, and ATP7B variant type. Currently it is diagnosed by a combination of clinical symptoms/signs, aberrant copper metabolism parameters (e.g., low ceruloplasmin serum levels and high urinary and hepatic copper concentrations), and genetic evidence of ATP7B mutations when available. As early diagnosis and treatment are key to favorable outcomes, it is critical to identify subjects before the onset of overtly detrimental clinical manifestations. To this end, we sought to improve WD diagnosis using artificial neural network algorithms (part of artificial intelligence) by integrating available clinical and molecular parameters. Surprisingly, WD diagnosis was based on plasma levels of glutamate, asparagine, taurine, and Fischer’s ratio. As these amino acids are linked to the urea–Krebs’ cycles, our study not only underscores the central role of hepatic mitochondria in WD pathology but also that most WD patients have underlying hepatic dysfunction. Our study provides novel evidence that artificial intelligence utilized for integrated analysis for WD may result in earlier diagnosis and mechanistically relevant treatments for patients with WD.

Original languageEnglish (US)
Article number1243
Issue number8
StatePublished - Aug 2021


  • Amino acids
  • Artificial neural network
  • Copper
  • Diagnosis prediction
  • Intermediary metabolism
  • Krebs’ cycle
  • Liver
  • Mitochondria
  • Urea cycle
  • Wilson disease

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology


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