1. Enfermedad de Menkes.
- Author
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Suárez, Harold Leonardo Londoño
- Subjects
- *
KINKY hair syndrome , *COPPER metabolism , *METABOLIC disorders , *HYPOTHERMIA , *CERULOPLASMIN , *COPPER deficiency - Abstract
The objective of this review is to be able to meet the main aspects of Menkes disease, a metabolic disorder characterized by disorders in metabolism of copper, trough the ATP7A transporter which reflects in a lack of enzime activity, that reflects in many abnormalities in the affected body characters as kinky hair, hypothermia, connective tissue abnormalities. The diagnosis of this disease is made only by abnormal results in serum copper and ceruloplasmin, once the diagnosis is made, the treatment, supplements the lack of copper in the body, in the way this review explains, after the basic explanation of Menkes' disease done here, is easier for any physician, detect the abnormal development of people affected with Menkes. [ABSTRACT FROM AUTHOR]
- Published
- 2010