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Menkes disease- Drug Today Medical Times

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Menkes disease is a disorder that affects copper levels in the body. Menkes disease affects more males than females as it only takes one copy of the X-linked recessive gene to be expressed for males to develop the disease.

It is understood that there is a cure of Menkes. Early treatment with injections of copper supplements (in the form of acetate salts) may be of some slight benefit. 70 per cent of Menkes cases are inherited.

Children affected with Menkes typically begin to develop very severe symptoms during infancy, but, in some cases, the symptoms may begin later in childhood.

Menkes is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. The symptoms of Menkes include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability.

The other symptoms of Menkes include curly, thin hair, dull and discolored hair rough to the touch, especially in areas subject to friction, and may be noticed as early as two months of age.

Some more symptoms of Menkes include trouble in weight gain, growth retardation, progressive nervous system deterioration, weak muscle tone, facial drop, seizures and intellectual disability.

Menkes can be examined by testing blood test of copper, ceruloplasmin levels, skin biopsy, and optical microscopic examination of the hair.  The abnormalities in bone formation can be examined by X-rays of skull and skeleton.

Urine homovanillic acid and vanillymandelice ratio is known as the screening tool to support early detection of Menkes.

Treatments to help relieve some of the symptoms includes pain medication, anti-seizure medication, feeding tube when necessary, and physical and occupational therapy.

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