Wilson's disease, Rare Disease FAQ

Understanding Unexplained Low Copper Levels After Genetic Testing

Even after genetic testing, the cause could still not be identified? Hello Doctor, a few years ago I had a neurological examination due to tremors and myoclonus, and my blood levels of copper and ceruloplasmin were low, with copper around 40 and ceruloplasmin at 10, but my urinar...

Dr. Jian Yingxiu Reply:
Genetic test results should be interpreted in conjunction with clinical symptoms and biochemical tests. Sometimes, abnormalities in clinical symptoms and biochemical tests may require follow-up to observe any changes. It is recommended that you bring your previous test results an...

Diet and Exercise Guidelines for Managing Tourette Syndrome in Children

Diet and Exercise for Tourette Syndrome Hello, Doctor: I would like to ask the following two questions. 1. Regarding dietary considerations for Tourette syndrome, the doctor mentioned avoiding shellfish, nuts, chocolate, and caffeine, which seems to align with a low-copper diet...

Dr. Lin Guanglin Reply:
A. Dietary recommendations for children with Tourette syndrome include: 1. Avoiding foods and beverages that contain caffeine. 2. Increasing the intake of fruits and vegetables. 3. If tests reveal elevated levels of copper in the body, it is necessary to limit high-copper foods; ...

Exploring Genetic Testing for Rare Diseases: Beyond Wilson's Disease

Wilson's disease? Genetic testing? Hello Doctor: Previously, I experienced involuntary hand tremors that caused significant distress, so I consulted a neurologist. Blood test results showed low levels of copper and ceruloplasmin, raising suspicion for Wilson's disease. ...

Dr. Lai Xiangrong Reply:
Wilson's disease genetic testing is currently available at the Changhua Christian Hospital Genetic Counseling Center, the Genetic Medicine Department of the National Taiwan University Hospital, and the Molecular Biology Section of the Laboratory Medicine Department at China ...

Understanding Wilson's Disease: Causes and Interaction Tips for Caregivers

Wilson's disease Wilson's disease is caused by a genetic mutation that leads to excessive accumulation of copper in the body, particularly affecting the liver and brain. This condition is inherited in an autosomal recessive manner, meaning that a child must inherit two ...

Dr. Jian Yingxiu Reply:
Wilson's disease is caused by abnormal copper ion metabolism in the body, leading to liver and brain damage. Currently, it can be managed with medication and a low-copper diet. Please confirm your diagnosis and treatment plan with your physician. Thank you.

Understanding Wilson's Disease: Symptoms, Diagnosis, and Military Exemptions

Wilson's disease Hello, doctor. It seems that someone in my family has similar symptoms, and I have also had a blood test. My copper level is 725, and one type of protein is at 20, which I believe is normally between 25 and 40. The doctors say that my level is low and that I...

Dr. Jian Yingxiu Reply:
Please discuss with your physician whether further laboratory diagnostics are needed for confirmation.

Essential Care Tips for Managing Wilson's Disease in Daily Life

How to care for individuals with Wilson's disease? What care considerations should be taken into account in daily life?

Dr. Jian Yingxiu Reply:
Please refer to the genetic disease counseling service window for information on Wilson disease (http://www.genetic-counseling.com.tw) or the Wilson Disease Association.

Effective Treatments and Medications for Wilson's Disease Management

The medications used for the treatment of Wilson's disease? Is there a specific treatment for Wilson's disease today? What medications are available for the condition?

Dr. Jian Yingxiu Reply:
Wilson's disease treatment aims to reduce copper levels in tissues to normal. In this regard, chelating agents such as penicillamine (Cuprimine, Depen) have shown significant effects in most patients. Additionally, trientine (Syprine) can also be considered. It is important ...