Abnormalities of copper metabolism in Wilson's disease and their relationship to the aminoaciduria.
نویسندگان
چکیده
منابع مشابه
Copper metabolism in normal adults and in clinically normal relatives of patients with Wilson's disease.
Wilson's disease (hepato-lenticular degeneration) is now known to be associated with an inborn error of metabolism. The following biochemical abnormalities have been repeatedly confirmed in patients suffering from the disease (Scheinberg, 1956; Bickel, Neale, and Hall, 1957): Increased content of copper in the liver, brain, and other tissues, increased urinary excretion of copper, a decreased l...
متن کاملLaboratory and histological similarities between Wilson's disease and rats with copper toxicity.
Rats were injected intraperitoneally with copper-lactate daily for over 160 days (total dose of 30 mg copper in each animal). At 120 to 160 days of copper administration, animals developed symptoms similar to those of Wilson's disease, i.e., kidney functional disturbances, proteinuria, aminoaciduria, decreased blood ceruloplasmin oxidase activity and increased urinary copper excretion. Cirrhosi...
متن کاملOcular motility and Wilson's disease: a study on 34 patients.
BACKGROUND Wilson's disease is an autosomal recessive genetic disorder resulting from an abnormality of copper metabolism. The excessive accumulation of copper in the brain induces an extrapyramidal syndrome. Oculomotor abnormalities occur in most extrapyramidal disorders but have rarely been studied in Wilson's disease. OBJECTIVE To evaluate the ocular motility manifestations of Wilson's dis...
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A 13 years old girl was admitted to the pediatric ward of hospital No 1 of Kerman university of medical sciences because of crampy pains, pins and needles sensation of the extremities and history of an episode of seizure. Her problem started one week prior to admission with pain in the leg muscles, flexion of the fingers followed by seizure. On physical examination, the prominent finding inclu...
متن کاملEVALUATION OF LABORATORY FINDINGS IN CHILDREN WITH WILSON\'S DISEASE IN EMA M KHOMEINI HOSPITAL DURING 1994-2003
Wilson's disease is a rare but treatable condition with variable clinical presentations. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the clinical and laboratory findings in children with Wilson's disease (WD). Twenty -seven children (4-14 years, 59.2 % male, 40.7% female) with confirmed WD were evaluated between 1994 and 2003 at Imam Khomeini Hos...
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عنوان ژورنال:
- The Journal of clinical investigation
دوره 33 3 شماره
صفحات -
تاریخ انتشار 1954