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Menkes Disease is a rare, genetic disorder related to copper metabolism. Menkes Disease can be detected before birth itself. This is a degenerative disease that progressively affects many organs of the body. This is a neurodegenerative disease linked with X-linked copper malabsorption. Symptoms are:
• Brittle, tangled, sparse or kinky hair
• Ivory or white hair
• Premature birth in infants
• Excess bilirubin
• Developmental delay
• Loss of early development skills
• Degeneration of retina and cysts of the iris
HOW IS MENKES DISEASE DIAGNOSED?
This disease can be diagnosed by a blood test which shows the levels of copper in the body. Since this is an inherited disorder genetic testing could also be performed. X-rays and biopsy of skin, hair and bones would show the abnormalities that are characteristic of this disease.
HOW IS MENKES DISEASE TREATED?
Treatment can only be effective if started as early as possible. The treatment consists of copper injections which are administered into a vein or under the skin.
DID YOU KNOW?
Menkes disease is an X-linked genetic disorder caused by mutations in the ATP7A gene that is responsible for production of the ATPase enzyme that regulates copper levels in the body. Variants of Menkes that are caused by mutations in the ATP7A gene but result in less severe symptoms include mild Menkes disease and occipital horn syndrome. It is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.