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What is Menkes?

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Menkes Disease : Finding Help & Hope from Daniel DeFabio on Vimeo.

Menkes Disease (MNK), also commonly known as Menkes Syndrome, Copper Transport Disease and Steely Hair Disease, Kinky Hair Disease or Menkes Kinky Hair Syndrome is a rare X-linked recessive neuro-degenerative disorder which is caused by a mutation in the ATP7A copper transporting ATPase gene, put more simply, a disorder in the copper levels of the body, causing maldistribution of copper with very low serum copper levels and caeruoplasmin  concentrations which is more common in males, as females require to defective alleles to develop the disease.

It is characterized by growth failure and a deterioration of the nervous system and typically begins during infancy.

 

Signs and symptoms of the disorder include sagging facial features, weak muscle tone (hypotonia), intellectual disability, delays in development, seizures and brittle hair which appears kinky, colourless or steel in colour, and is easily broken. In some cases, symptoms can begin later in childhood and may be less severe.

Symptoms usually appear during infancy as a result of abnormal intestinal copper absorption with secondary deficiency in copper-dependent enzymes, usually followed by slightly reduced development which may proceed for 2 to 3 months. This is then followed by a severe development delay and loss of early developmental skills.

There can also be extensive neurodegeneration to the grey matter of the brain.

There are three fundamental issues that must be addressed in helping children who suffer from Menkes:-

n The block in intestinal absorption of copper must be bypassed

n Copper must be made available to the enzymes within cells that require it as a cofactor.

n Affected infants must be identified and treatment commenced very early in life before irreparable neurodegeneration occurs.

 

 

 

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