Non-Menkes Type Copper Deficiency
نویسندگان
چکیده
منابع مشابه
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
Copper dependency in humans is most dramatically illustrated in Menkes disease, an X linked recessive copper deficiency disorder that is generally lethal in early childhood. 2 Menkes disease is caused by mutations in a transmembrane copper transporting P type ATPase, MNK (or ATP7A), which is expressed in virtually all non-hepatic tissues. Studies using cultured cells suggest that MNK is located...
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The trace element copper is vital to the healthy functioning of organisms. Copper is used in a multitude of cellular activities including respiration, angiogenesis, and immune responses. Like other metals, copper homeostasis is a tightly regulated process. Copper is transported from dietary intake through the serum and into cells via a variety of transporters. There are a variety of copper chap...
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In the 25 y since copper deficiency was first delineated in persons with Menkes syndrome, advances in our understanding of the clinical, biochemical, and molecular aspects of this rare disorder have surpassed progress in the design of effective therapies. In contrast with purely nutritional copper deficiency, in which copper replacement can be curative, the nature of the basic defect in Menkes ...
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We write to congratulate Dr Jonathon Shaw on his comprehensive and balanced review of copper deficiency in infancy and its relation to fractures diagnosed as nonaccidental injury.' We trust that it will put an end to poorly supported attempts on the part of some expert witnesses to ascribe fractures to copper deficiency in circumstances when it is manifestly not present. These attempts have bee...
متن کاملDefective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.
Menkes disease is an X-linked disorder of copper metabolism. An overall copper deficiency reduces the activity of copper-dependent enzymes accounting for the clinical presentation of affected individuals. The Menkes gene product (MNK) is a P-type ATPase and is considered to be the main copper efflux protein in most cells. The protein is located primarily at the trans -Golgi network (TGN), but r...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1991
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-5-9-3