Menkes Disease | USMLE Step 1 Mnemonic
Автор: Pixorize
Загружено: 2019-01-24
Просмотров: 28724
Menkes Disease, also known as Menkes Syndrome or "kinky hair syndrome", is an X-linked recessive disorder affecting copper levels. Menkes disease is caused by an inherited mutation of ATP7A, a copper transporter responsible for moving copper out of the intestines. Labs in patients with Menkes disease will show low copper levels in the blood. This apparent copper deficiency leads to poor cross-linking of collagen, since this process requires the copper-dependent enzyme, lysyl-oxidase. Symptoms of Menkes disease include characteristic brittle or kinky hair, growth retardation, and decreased muscle tone. While there is no cure for Menkes disease, treatment is supportive and aimed at relieving symptoms.
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