Wilson’s disease is characterised by all except?
Correct Answer: The defective gene is ATP 7A
Description: Option 1 - ATP7A gene defect leads to Menke’s disease.
Option 2 - Wilson disease leads to copper accumulation leading to reduced concentration of Ceruloplasmin. Copper is deposited mainly in the liver and brain. Parkinsonism, ataxia, dystonia, subcortical dementia, seizures, psychosis and migraine are all neurological features.
Option 3 - Kayser-Fleischer rings (copper in Descemet’s membrane in eye) and sunflower cataracts are typical eye findings.
Option 4 - Eventhough reduced ceruloplasmin and raised urinary copper may suggest the possibility of Wilson’s, the diagnosis is confirmed using a liver biopsy to estimate copper levels.
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