Overview
Definition
Copper overload disorder.
Epidemiology
Varies globally depending on genetics, environment, or exposure.
Etiology & Risk Factors
- Autosomal recessive mutation in ATP7B gene.
Clinical Symptoms
- Liver disease
- Parkinsonian symptoms
- psychiatric changes
- Kayser-Fleischer rings.
Clinical Approach
Diagnosis
- Low serum ceruloplasmin
- High 24-hour urine copper.
Management
- Copper chelators (Penicillamine
- Trientine)
- Zinc.
Complications
- Fulminant hepatic failure
- severe neurologic damage.