Wilson's Disease (Hepatolenticular Degeneration)

by Carlo Raj, MD

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    Here, we have Wilson’s disease. And Wilson’s disease, it is an autosomal recessive disease in which there is going to be a defect in copper transportation. So think about copper, please. And how it’s extremely, extremely, important for us to have it so that we have proper metabolism or should I say, proper creation and synthesis of collagen. And so you all have heard of what’s known as oxidase, lysyl oxidase. So, in biochemistry, when you talked about collagen synthesis, you talked about two major enzymes, one requiring vitamin C and that was hydroxylase, lysyl and prolyl. The other major enzyme that was responsible for some of the triple helix movement or should I say stabilization of the collagen or was because of the copper. Results in excessive serum copper. What do you mean by excessive serum copper? Well, it’s the fact that you might have excess free copper that’s floating around. Well, how can you call this a copper disease and yet, you have excess free copper? Because I said specifically, it’s a copper transportation disease. So remember the – We talked about this earlier, the transporter from the liver for copper is called ceruloplasmin. And that’s where the problem is. If you have a deficiency of ceruloplasmin, then you decrease the bound, but the free is allowed to run free. And where all does the free copper then accumulate? It can accumulate in the basal ganglia, and when it does, it may result in, well, Parkinson-like type of movement disorder. The free copper could accumulate in the iris. We then call this Kayser-Fleischer. And the free copper of course could accumulate in the heart and in the liver causing respective diseases. The copper deposition into liver, kidney, cornea, in CNS, and particularly in the basal ganglia, our topic...

    About the Lecture

    The lecture Wilson's Disease (Hepatolenticular Degeneration) by Carlo Raj, MD is from the course Movement Disorders.

    Included Quiz Questions

    1. Autosomal recessive.
    2. Autosomal dominant.
    3. Sex linked recessive.
    4. X linked dominant.
    5. X linked recessive.
    1. 24 hour urine copper.
    2. Liver biopsy.
    3. Serum ceruloplasmin.
    4. Serum copper.
    5. CT scan of the brain.
    1. D-penicillamine.
    2. Trientine with zinc.
    3. Dopamine.
    4. Elevated Cooper.
    5. Elevated Ceruloplasmin.
    1. Excessive serum copper, basal ganglia.
    2. Excessive serum copper, frontal lobe.
    3. Decreased serum copper, basal ganglia.
    4. Excessive serum copper, cerebellum.
    5. Decreased serum copper, cornea.

    Author of lecture Wilson's Disease (Hepatolenticular Degeneration)

     Carlo Raj, MD

    Carlo Raj, MD

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