1. Menkes' syndrome: an updated review.
- Author
-
Hart DB
- Subjects
- Adolescent, Animals, Child, Child, Preschool, Copper metabolism, Disease Models, Animal, Hair pathology, Humans, Infant, Infant, Newborn, Menkes Kinky Hair Syndrome metabolism, Menkes Kinky Hair Syndrome pathology, Menkes Kinky Hair Syndrome therapy, Mice, Mice, Mutant Strains, Brain Diseases, Metabolic diagnosis, Menkes Kinky Hair Syndrome diagnosis
- Abstract
Menkes' syndrome is an X-linked recessive multisystem disease which is usually fatal prior to 5 years of age. Though originally felt to be a disorder of copper deficiency, it now appears to be a copper storage disease, with the observed defects resulting from inappropriate systemic copper distribution. Disorders in the metabolism of metallothionein, a metalloprotein involved in cellular copper transport, may be the primary defect in this syndrome. This review summarizes the relevant clinical and pathologic findings seen in this condition to date. It also describes some of the abnormalities in the metabolism of copper and metallothionein in these infants.
- Published
- 1983
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