Wilson’s Disease, a rare autosomal recessive genetic disease, is caused by a mutation in the ATP7B enzyme gene. Without this enzyme, copper builds up in the brain, liver, and cornea causing a multitude of symptoms. It is important to consider Wilson’s disease because the prognosis is dependent on timely diagnosis. This is an interesting case of a 19-year-old male who presented with suicidal thoughts and rapid weight loss. After many months and an extensive work-up, Wilson’s Disease was diagnosed. Due to his rapid decline, he was transferred to a larger university healthcare center where he is currently enrolled in clinical trial for WTX101.
Conflict(s) of Interest
The authors have no financial disclosures to declare and no conflicts of interest to report.
Irvin, Sarah and McCarthy, Ryan
"Acute Diagnosis of Wilson’s Disease in a Teenage Patient,"
Marshall Journal of Medicine:
4, Article 3.
Available at: https://mds.marshall.edu/mjm/vol5/iss4/3
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