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hepatolenticular degeneration <gastroenterology, neurology> An inherited disorder where there is excessive quantities of copper in the tissues, particularly the liver and central nervous system.
Wilson's disease causes the body to absorb and retain copper. The copper deposits in the liver, brain, kidneys and eyes. Complications include dementia and liver failure.
Symptoms include jaundice, vomiting, tremors, weakness and slow stiff movements. Blood tests show serum ceruloplasmin is low. Medications are given to remove the excess copper from the body. Even with life-long treatment, disabling (and life-threatening) side effects are common.
Inheritance: autosomal recessive.
(27 Sep 1997)
hepatolenticular disease <gastroenterology, neurology> An inherited (autosomal recessive) disorder where there is excessive quantities of copper in the tissues, particularly the liver and central nervous system. Wilson's disease causes the body to absorb and retain copper. The copper deposits in the liver, brain, kidneys and eyes. Complications include dementia and liver failure.
Symptoms include jaundice, vomiting, tremors, weakness and slow stiff movements. Blood tests show serum ceruloplasmin is low. Medications are given to remove the excess copper from the body. Even with life-long treatment, disabling (and life-threatening) side effects are common.
Inheritance: autosomal recessive.
(27 Sep 1997)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Hepatolenticular Degeneration - »õâ 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.
    Synonyms : Hepatic Form of Wilson Disease, Hepato-Neurologic Wilson Disease, Hepatocerebral Degeneration, Kinnier-Wilson Disease, Progressive Lenticular Degeneration, Westphal-Strumpell Syndrome, Wilson Disease, Hepatic Form, Wilson's Disease, Cerebral Pseudoscleroses
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hepatolenticular degeneration a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
Ãâó: wordnet.princeton.edu/perl/webwn
hepatolenticular degeneration Another name for Wilson
Ãâó: www.gastrolab.net/dicteh.htm
hepatolenticular pertaining to the liver and the lenticular nucleus.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
hepatolenticular d. Wilson's disease.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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hepatolenticular a rare inherited disorder of copper metabolism
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