WilsonÕs disease is a genetic disorder that results in copper excess. Onset of WilsonÕs Disease is usually in late childhood. Hepatitis symptoms usually appear before age 30. Central nervous system symptoms usually appear after age 30.
tremulousness, abdominal pain, dystonia
loss of fine hand motor function - writing, piano playing
excessive salivation and drooling
psychiatric symptoms, hepatic failure symptoms
Kaiser-Fleischner rings - brownish opacity around edge of cornea
hepatomegaly, splenomegaly, blue nail lunulae
resting and intention tremors, dysarthria, ataxia, rigidity
chronic illness leading to death before age 30 without treatment
portal hypertension, hypersplenism, hemolytic anemia
proximal tubule Fanconi syndrome
WilsonÕs disease is caused by defective copper excretion with deposition in liver and basal ganglia. Diminished ceruloplasm synthesis causes decreased binding.
ceruloplasm < 20 ugm %
uric acid decreased due to poor proximal tubule reabsorption
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