What Is A Menkes Disease?

March 22 22:16 2019 Print This Article

It is defined as a disorder in which there is a low copper level in the body. It is also known as the kinky hair disease. It was described by the H M et al. It was described in the year 1962. It is x linked disorder and is quite common in the males. The female needs different alleles so that the disease develops.

What are the signs and symptoms of Menkes disease?

It includes the sparse as well as coarse hair. There is a failure of growth as well as nervous system. The problem starts during the infancy. There is a weak muscle tone as well as facial features which are lagging behind. There is a delay in the physical as well as mental growth. The meta physes are wide and there are brittle hair. The symptoms start in the later part of child hood and are not so severe.

There is a mild form of this syndrome known as the occipital horn syndrome in which there is a deposition of calcium in the bones. It is seen at the base of skull. One also sees a coarse hair as well as loose skins and joints. The symptoms are seen as a result of low copper absorption by the decrease in enzymes which depend on the copper. These are present in the mitochondria.

The slow development is seen for few months and then there is a loss of developmental skills. In this disorder one observes seizures as well as inability to thrive, the body is below normal temperature and there is a loss of skills which are mainly developmental. One can also see weak bones. It may lead to fracture. The hairs are colorless as well as kinky. They are easily broken. The nerves which are present in the brain break down. The arteries in the brain can be twisted and may break. The weak bones can lead to fracture.

What are the causes of Menkes disease?

It includes the genetic aspect mainly. There are few mutations which are seen on the gene.It is inherited and is x linked recessive in nature. The defective gene present on the chromosome leads to this disorder. The gene involved is ATP 7A. It is not properly distributed to the cells. The copper accumulates in the kidneys as well as in the small intestine. It is accumulated in the brain in very low doses. The copper containing enzymes have low activity and the function of bone, hair, skin as well as hair along with the blood vessels and nervous system is affected in adverse manner. So, the copper level must be kept in check in long run. The chromosome involved is X q 13.

How Menkes disease can be diagnosed?

It includes the use of urine homo vanillic acid as well as vaniyl mandelic acid which is quite useful.

How Menkes disease can be treated?

It can be treated with the help of a intra venous as well as sub cutaneous injection. One uses a copper supplements which are of limited benefit. One can also go for supportive as well as symptomatic treatment.

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