2. Copper (Cu)
Total body copper is about 100mg
Sources :liver, fish, meat, lentils
milk is a poor source
RDA: 1-3mg
3. Functions
Mobilization of iron
Fe2+ Ceruloplasmin Fe3+
Formation of enzymes
dopamine oxidase, serum ferroxidase,
ALA synthase, monoamine oxidase,
tyrosinase etc.
4. Functions of ATP7B
1) Binds Cu to Apoceruloplasmin
2) Packages Cu into vesicles for exocytosis in bile
Cu2+
• Absorption : from duodenum
• Metallothionein – facilitates
absorption
• Phytates, zinc and
molybdenum decrease Cu
uptake
Excretion of copper
90% Bile fecal Cu
10% urine
5. Excess of Cu
Initially bound to metallothionein, but as this storage capacity is
exceeded , liver damage begins
Cu2+ Cu2+ + *OH + -OH
H2O2
Free radical
Tissue damage
6. DEFINITION
Wilson’s disease occurs due to a defect of
copper transport by the hepatic lysosomes.
Genetic defect in excretion of Cu resulting
in excess deposition of Cu in body tissues.
It is autosomal recessive disorder.
7. Frequency of carriers ~1%
Siblings of diagnosed patient have a 1 in 4
risk
Whereas children of affected individual
have 1 in 200 risk.
17. MRI in WD
a. ‘Face of giant panda’ sign;
b. MRSS: decreased NAA and therefore a
decreased ratio with other products
c. Bright lateral putamen or claustral sign;
d. Pallidal hyperintensity
20. Manage
ment
Symptomatic
Medical Surgical
Symptomatic medical treatment
Of disabling symptoms
Surgical therapy for medically
Refractory symptoms
thalamotomy
splenectomy
Disease modifying
Medical Surgical
Penicillamine
Zinc
Trientine
Ammonium tetrathiomolybdate
Liver transplantation
For fulminant hepatic failure