Hepatolenticular degeneration
Hepatolenticular Degeneration is a rare, inherited neurological disorder characterized by the body's inability to manage copper within the liver. The excess copper accumulates and is then released into other parts of the body, including the brain, leading to various neurological symptoms.
Symptoms[edit | edit source]
The symptoms of Hepatolenticular Degeneration, also known as Wilson's disease, can vary greatly among patients. They may include:
- Jaundice (yellowing of the skin and eyes)
- Fatigue
- Abdominal pain
- Anemia
- Uncontrolled movements or muscle stiffness
Causes[edit | edit source]
Hepatolenticular Degeneration is caused by mutations in the ATP7B gene. This gene provides instructions for producing an enzyme that is important for regulating copper levels in the body.
Diagnosis[edit | edit source]
Diagnosis of Hepatolenticular Degeneration involves a combination of clinical findings, laboratory testing, and often genetic testing.
Treatment[edit | edit source]
Treatment for Hepatolenticular Degeneration typically involves medications to reduce the amount of copper in the body, and maintaining a low-copper diet. In severe cases, a liver transplant may be necessary.
Prognosis[edit | edit source]
With early diagnosis and treatment, individuals with Hepatolenticular Degeneration can often lead normal lives. However, if left untreated, the disease can lead to severe brain damage, liver failure, and ultimately death.
See Also[edit | edit source]
References[edit | edit source]
Hepatolenticular degeneration Resources | ||
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