Menkes Disease Mutations

Menkes Disease

They are some diseases and disorders that individuals inherit from their parents. It is always important for individuals to know if they carry the genes for any of these diseases, so that you will know if you can pass it on to your children.

Menkes Disease is also refereed to as steely hair disease, or Menkes kinky hair syndrome. Menkes disease is a hereditary disorder that results in problems in parts of the body due to cells not having enough cooper in the body. Menkes disease is a very serious aliment. It is characterized by the failure of the individual to grow, a deterioration of the nervous system and the coarse hair.

Who Can Get It?

Menkes disease usually begins during infancy. Menkes occurs in approximately 1 in 250,000 births. It seems to occur more in males than in female babies. The first sign of Menkes usually occurs at the age of two to three months of age.

What can cause it?

Menkes disease is inherited as an X-linked recessive disorder involving the gene that encodes copper-transporting ATPase. They are some cases however, in which an individual can still develop Menkes Disease, even if no one in there family has shown a history of having the illness.

How does it happen?

A mutation in the ATP7A gene causes Menkes disease. As a result of this mutation cooper is poorly distributed to cells in the body. The condition is considered X linked if the mutated gene that causes the disorder is located on the X chromosome. In males, who only have one X chromosome, one altered copy of the gene causes the condition. In females, who have two X chromosomes, the mutation must be present in both copies of the gene for the aliment to be present. A father cannot pass the X-linked trait to their sons.

What are the symptoms?

The symptoms of Menkes syndrome include a progressive mental deterioration, pudgy rosy cheeks, sagging facial features, lack of muscle tone, irritability, seizures, brittle, kinky hair, feeding problems, low body temperature, bone spurs, and skeletal changes. The skin and hair can appear to be abnormally light in color. In some rare cases, if symptoms begin in later childhood they are less severe.

How can it be diagnosed?

A doctor will first find out if there is a history of Menkes disease in the family. Signs can include slow growth in the mother’s womb. An X-ray of the skeleton or the skull may show abnormal bone appearances. Test will be conducted to see if the person’s serum cooper level is low. A test will be done to see if the individual’s serum ceruloplasmin level is also low. An examination under the microscope of the individual’s hair is also done. The hair will appear to be whitish and kinked when viewed. Genetic testing may also be done to locate the mutated gene.

What treatments are available?

There is no real effective treatment for Menkes disease, however, if no treatment is given, death can usually occur within the first few years of life. Some success has been seen with administering intravenous or orally cooper supplements within the first few months of life. This treatment only increases the life expectancy. More effective treatments are being researched at this time to help in the fight against Menkes disease.

Genetic counseling and screening is recommended for prospective parents with a family history of Menkes syndrome. An evaluation by a geneticist is recommended for maternal relatives of an affected boy to determine genetic risks and carrier status for this aliment.

While not all aliments and illnesses are easy to treat and are curable, it is important that individuals get the medical attention they need. Individuals suffering from Menkes disease will not be cured of this syndrome, but they can help to prolong the person’s life until better treatment options become available. Treatments are focused on improving the quality of life of the individual. This is one illness that parents should also seek out support groups to meet with and discuss the options that are out there. It is important for the parents to understand that they are not the only one with a child inflicted with this illness.

Hope this article will provide you information about menkes disease.

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