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
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
And that’s where the problem is.
If you have a deficiency
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
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 here, ladies and
gentlemen, being what?
So with Wilson’s, what are
your clinical features?
Well, if you’re affecting
the basal ganglia,
obviously, you’re going to expect
Parkinson type of movement disorder,
tremors, hyperkinetic movement,
cognitive, personality and mood
disturbance because this free copper, man,
it is damaging the brain
anywhere and everywhere.
If you take a look at the iris in this
individual with Wilson’s disease,
you’ll notice the areas
in the iris in which
they then appear as being
destroyed or lesioned.
This is then referring to what’s
known as Kayser-Fleischer ring.
A golden brown or greenish discoloration
of the limbus of the cornea
and due to copper deposition,
obviously free copper.
If you were to then check
for serum or labs,
you would expect there to be increased
or elevated free serum copper,
and what did I say, where did you
want to begin with this disease?
It’s the fact that it’s a
Elevated 24-hour urine
copper as you can imagine,
and that being the most important
test for screening and diagnosis
of course would be
by biopsy to confirm
your disease or diagnosis
of Wilson’s disease.
And we have something
called trientine with zinc.
Now, with penicillamine,
With penicillamine, it may then
actually cause damage to the kidney.
There’s every possibility that over a
long period of time with penicillamine,
it may result in something called
your membranous glomerulonephropathy
and we talked about
Keep that in mind, please.
Kidney disease with penicillamine.
Always think about Wilson’s
disease in a young patient
with a movement disorder or atypical
type of psychiatric presentation.
That’s something that you
want to keep in mind.