Keywords
Wilson's disease, depression, suicidal ideation, neurogenetics, copper metabolism, neurologic Wilson's disease, hepatic, tremor in teenager
Disciplines
Digestive System Diseases | Genetic Phenomena | Hepatology | Medical Genetics | Medical Pathology | Medicine and Health Sciences | Nervous System Diseases | Neurology | Other Mental and Social Health | Psychiatry
Abstract
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.
Recommended Citation
Irvin S, McCarthy R.
Acute Diagnosis of Wilson’s Disease in a Teenage Patient.
Marshall J Med.
2019;
5(4): 16
DOI: https://doi.org/10.33470/2379-9536.1242.
Included in
Digestive System Diseases Commons, Genetic Phenomena Commons, Hepatology Commons, Medical Genetics Commons, Medical Pathology Commons, Nervous System Diseases Commons, Neurology Commons, Other Mental and Social Health Commons, Psychiatry Commons
