An improper physiological utilization of the essential mineral copper leads to a rare hereditary disorder commonly known as Menkes' disease. It was universally though till recent times that Menkes' disease was fatal and incurable. This has now been questioned because the severity of the disorder often differs in intensity from one individual to the other and all cases of the condition may not be lethal.
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Even before the child is born, a genetic analysis is usually conducted by medical doctors in order to diagnose the disorder. This is done so that early treatment can be begun at once after birth to minimize the severity of the physical defects that can arise in such children later, and this is the preferred treatment methodology in most cases where the genetic defect appears responsive to copper therapy.
Mothers of babies in whom the disorder has been identified can start receiving treatment even begin before the birth of the baby and while they are still in the term of pregnancy, they are usually administered dermal injections of copper histidine as a supplementary measure.
The treatment of Menkes' disease requires the supervisory role of both healthcare professionals and geneticists - who are specialists in hereditary diseases, these professionals must be consulted for the best treatment methodology and they will know exactly what needs to be done.
Some of the physical abnormalities and symptoms associated with Menkes' disease can include growth retardation, the presence of white hair with a kinky texture, and some form of mental deterioration or instability.
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Menkes' disease results in acute deterioration of the cerebral as well as changes in the arteries, often leading to death during infancy. Often, this disorder is diagnosed by examining the hair of the sufferer. When their hair is observed under a microscope, it appears whitish as well as twisted.
It may be noted here that Menkes' disease passes on from one individual to another in the form of an X-related latent trait. People affected by this disorder are not able to transfer copper - the mineral which is essential for enzymes responsible for the formation of bones, nerves as well as other structures.
Several additional diseases, counting type IX Ehlers-Danlos syndrome, may possibly be caused due to allelic mutations (denoting same gene mutations with somewhat dissimilar symptoms). Scientists are optimist that further studies concerning these disorders may possibly be helpful in combating Menkes' disease.
Provided copper histidine is administered in injection form to the sufferer in the initial few months of their lifer, it may prove to be effective and enhance the life span of a number of patients. Nevertheless, this particular treatment just helps to extend the life expectancy of the patient for anything between three and 13 years. Therefore, this treatment can just be regarded to be a palliative.
Even mice suffer from a health condition that is similar to Menkes' disease and it is expected that working with these types of organisms will assist in providing some understanding regarding the copper transportation means in humans, thereby helping scientists to develop successful methods for treating Menkes' disease and provide relief to the patients.
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A possible scheme was illustrated in the year 1989, by one researcher regarding Menkes' disease, this professional suggested that it was caused by a defect in zinc metabolism and because of this copper was depleted in the body. For this reason, preliminary test tube research has been conducted to investigate the possibility of this zinc-copper interaction as a cause for Menkes' disease.
Zinc supplementation have not affected the conditions and the studies reported that supplementation with zinc does not even alter the way the cells in individuals with Menkes' disease utilize copper. Menkes' disease as far as know, is therefore, not caused by a defective metabolism of zinc, and hence its supplementation is unlikely to help patients with the condition.
Injections of copper are used to treat Menkes' disease, these are mostly dermal injections. The severity and the intensity of the symptoms associated with the condition often determine the success or the failure of this treatment. When treatment began in earnest at an early age and where the condition was mild in its manifestation, the favorable effects of injectable copper on the development of the brain and on overall nerve development in people with Menkes' disease were observed in some of the controlled and long term studies.
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This is not the case where the genetic defects in the patient was severe or in those cases in which the therapy was started only after the physical defects had already manifested themselves and in both cases the copper therapy failed to make a dent in the condition of the Menkes' patient.
Additionally in some of the patients with Menkes' disease, it has been noticed by certain researchers that copper can accumulate to damaging levels in the tissues during supplementation with copper; in all cases supplements of copper were being given to the patient. During supplementation with copper one of the patients, a boy developed low blood pressure in response to changing body position-known as orthostatic hypotension, he also had an enlarged spleen, and there was a ballooning up of an artery in his abdomen, this is an example of what ca happen during copper supplementation in people who may not benefit from it.
While reasonable precautions must be taken, it is still not verified if these anomalies can result from therapy or from the Menkes' disease itself and such side effects may not become apparent in all patients who undergo the administration of copper injections. However, the experimental nature and the potential danger of copper therapy are still acknowledged by most professionals.
This is the reason all supplements of copper administered to people with Menkes' disease must occur under the supervision of a healthcare professional and a medical professional must be consulted in all cases.
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In case the child affected with Menkes' disease is administrated copper histidine on a regular basis within a few days of developing the disorder, it can bring about improvement in the condition. In fact, copper histidine has the potential to lessen the mental degradation and, in several instances, extend the life expectancy of the patient. Precisely speaking, if the treatment is started in the fetal stage, it is generally more useful. It may be noted that copper histidine is administered to the patient on a daily basis by means of subcutaneous injection (just beneath the skin), which needs to be given all through the life of the child.
There are additional treatments for Menkes' disease and they are basically supportive and symptomatic (based on the symptoms endured by the patient). Provided the diagnosis is done quite late and the treatment does not yield the desired results, physicians often provide supportive treatment as well as care for the entire life of the patient. It is unfortunate that this generally occurs in the case of the first child born with flawed genes if a history of this disorder runs in the family.
Speaking from the logical point of view, it would appear that provided copper could enter the cells as well as the organs that required this mineral, it would be possible to avoid or lessen this disease. In fact, scientists have made several endeavours to administer copper by means of intramuscular injections, but the results were mixed. While those suffering from the mild form of Menkes' disease responded to this well, there was no change whatsoever in patients with severe forms of the disease. Currently, scientists are studying this type of treatment as well as others.
Treatment for Menkes' disease aims at alleviating the symptoms. Besides medical experts, employing physical as well as occupational therapy may also prove to be helpful in maximizing the potential. For instance, an expert nutritionist will prescribe a diet comprising high amounts of calorie usually to be taken together with supplements included to baby formula. In addition, undertaking a genetic screening of the family members of the sufferer will also help to discover the carriers and counselling as well as guidance can be given on the risks of recurrence of this disease in other infants. Precisely speaking, the risks of recurrence are one in every four for every pregnancy.