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Detection of the carrier of Wilson's disease

From the Departments of Neurology and Medicine and the Division of Clinical Pathology, University of California School of Medicine, San Francisco, and the Sections of Nuclear Medicine and Clinical Neurochemistry, Clinical Laboratory Service, and the Clinical Study Center, San Francisco General Hospital

SUMMARYWhole-body counting over a three- to four-week period following the intravenous administration of copper 67 in 11 normal volunteers, 2 neurological control patients, 7 control subjects with cirrhosis, and 10 homozygotes and 7 heterozygotes of Wilson's disease showed that whole-body retention of radio-copper was prolonged in the wilsonian subjects, both homozygous and heterozygous, and in cirrhotic patients with ascites or hepatocellular failure or both.

If the latter can be excluded, prolonged whole-body retention of radiocopper serves to identify the presence of the abnormal gene or allele of Wilson's disease. Because of overlap, it is not possible to distinguish the heterozygote from the homozygote by whole-body counting alone.

External probe counting over the liver and muscle, carried out in 5 control subjects, 8 homozygotes, and 5 heterozygotes, revealed abnormal hepatic uptake with little apparent release of radiocopper and usually evident uptake in muscle in the homozygotes and reasonably normal hepatic uptake with delayed release and no apparent muscle uptake in the heterozygotes, compared with the control subjects.

It appears that external monitoring of hepatic and muscle radioactivity, in addition to whole-body turnover measurements after intravenous copper 67, permits more accurate determination of the genetic status of individuals in respect to Wilson's disease.

Dr. O'Reilly's address is Department of Neurology, Room 923, George Washington University Medical Center, 2150 Pennsylvania Avenue, N.W., Washington, D.C. 20037.

Presented in part at the American Academy of Neurology Meeting, Washington, D.C., April 25, 1969

Supported by U.S. Public Health Service grants NB 07102 and FR-83

Submitted for publication Dec. 9, 1969; accepted Dec. 29, 1969.