Hepatolenticular Degeneration

Overview

A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Hepatolenticular Degeneration

Topic type

Condition

Category

Neurology

MeSH classification

C06.552.413|C10.228.140.079.493|C10.228.140.163.100.360|C10.228.662.400|C10.574.500.487|C16.320.400.361|C16.320.565.189.360|C16.320.565.618.403|C18.452.132.100.360|C18.452.648.189.360|C18.452.648.618.403

Preparing for an appointment about Hepatolenticular Degeneration

If you are speaking with a healthcare professional about Hepatolenticular Degeneration, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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