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Wilson disease is an autosomal recessive genetic disorder characterized by the body's inability to metabolize and excrete copper. Common symptoms include fatigue, lack of appetite, abdominal pain, jaundice, and golden-brown discoloration of the eyes. It is diagnosed through a liver biopsy to test for excess copper levels or identification of genetic mutations and affects approximately 1 in 30,000 people worldwide. Treatment involves heavy metal toxicity medication, dietary supplements, and potentially liver transplants if left untreated.

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63 views1 page

Medical

Wilson disease is an autosomal recessive genetic disorder characterized by the body's inability to metabolize and excrete copper. Common symptoms include fatigue, lack of appetite, abdominal pain, jaundice, and golden-brown discoloration of the eyes. It is diagnosed through a liver biopsy to test for excess copper levels or identification of genetic mutations and affects approximately 1 in 30,000 people worldwide. Treatment involves heavy metal toxicity medication, dietary supplements, and potentially liver transplants if left untreated.

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api-338146197
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Sympt oms:

DOM INANT
- Fatigue, lack of appetite or
abdominal pain OR
Wilson Disease - A yellowing of the skin and
the whites of the eye
RECESSIVE
By: Sher idan Dotson, Meadow (jaundice) Wilson disease is an autosomal
- Golden-brown eye recessive disease, which
Shelton, and Autumn Stapleton means it occurs equally in men
discoloration
and women.
(Kayser-Fleischer rings)
- Fluid buildup in the legs or
abdomen
- Problems with speech,
swallowing or physical
coordination

How is it diagnosed?
- Your doctor inserts a thin
needle through your skin, into How common is W ilson disease?
your liver and draws a small - Worldwide, approximately
sample of tissue. A lab tests 1 in 30,000 have Wilson
Disease.
the tissue for excess copper. Treat ment :
- It is more common is
- Genetic China, Japan, and - Heavy metal toxicity
- A blood test can identify the Sardinia medication
genetic mutations that cause - Dietary Supplements
- Liver transplants
Wilson disease.
Prognosis:
- Untreated Wilson disease
is associated with sever
brain damage, liver www.medicalcarecenter.com
failure, and death

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