Chapter

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

Michael L. Schilsky and Pramod K. Mistry

in Oxford Textbook of Medicine

Published on behalf of Oxford University Press

Published in print May 2010 | ISBN: 9780199204854
Published online May 2010 | e-ISBN: 9780199570973 | DOI: http://dx.doi.org/10.1093/med/9780199204854.003.120702

Series: Oxford Textbooks

Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease

Show Summary Details

Preview

Copper is an essential metal that is an important cofactor for many proteins and enzymes. Two related genetic defects in copper transport have been described.

An uncommon disorder (1 in 30 000) caused by autosomal recessive loss of function mutations in a metal-transporting P-type ATPase (...

Chapter.  4513 words.  Illustrated.

Subjects: Clinical Medicine

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.