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Wilson disease
Wilson disease is a rare genetic disorder that causes a build-up of copper in the liver and brain. This build-up can lead to liver damage, neurological symptoms, and even death if left untreated. The disorder is caused by a mutation in the ATP7B gene, which regulates the metabolism of copper in the body
Prevalence
1-9 / 100,000
Age of Onset
ICD-10
E83.0
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Wilson disease is a rare, autosomal recessive genetic disorder that interferes with the excretion of extra copper
FACT
It was first described in 1854 by a German pathologist Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson
FACT
Excessive copper builds up in different tissues such as liver, brain and eyes causing organ dysfunction
FACT
Diagnosis is often tricky and requires assessment of serum and urinary copper levels. So far, no curative treatment is available
FACT
Complications can be prevented by managing serum copper levels by a variety of chelation agents
Interest over time
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Common signs & symptoms
Abnormality of the hand
Abnormality of the menstrual cycle
Acute hepatic failure
Acute hepatitis
Aggressive behavior
Anemia
Arthritis
Arthralgia
Current treatments
The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require
Zinc acetate(Brand name: Galzin)
Manufactured by Lemmon Company
FDA-approved indication: For maintenance treatment of patients with Wilson's disease who have been initially treated with a chelating agent.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Trientine HCl(Brand name: Syprine )
Manufactured by Merck Sharp & Dohme Research
FDA-approved indication: Treatment of patients with Wilson's disease who are intolerant, or inadequately responsive to penicillamine.
National Library of Medicine Drug Information Portal