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Doctors for Menkes Disease in Mandihal, Hubli-Dharwad
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Menkes Disease causes the imbalance of copper in the body. In this disease the cells or intestines are able to absorb copper but are not able to release it into the bloodstream when required which results in a lack of copper in other parts of the body such as the brain. Seizures, low body temperature, weak muscles, brittle hair and difficulty in feeding have been observed in children with this disease.
HOW IS MENKES DISEASE DIAGNOSED?
Menkes disease is diagnosed by measurement of a decreased amount of copper and ceruloplasmin in blood plasma but these tests are not always reliable in the newborn period. A new method of diagnosis that can potentially identify affected infants before copper deficiency affects the brain involves measurement of catecholamine levels in blood plasma.
HOW IS MENKES DISEASE TREATED?
Treatment is mainly symptomatic. Early parenteral copper-histidine supplementation may modify disease progression and some symptoms by providing extra copper to tissue and to copper-dependent enzymes. Oral administration of copper is ineffective as it is trapped in the intestines.
DID YOU KNOW?
Future studies are looking into ways to diagnose Menkes disease earlier in infants. Currently there is no effective method of diagnosing the disease early in newborns.