Peroxisomal Disorders: Causes, Symptoms and Treatment

Inherited disorders can be difficult to get rid of but the point is to find the underlying cause of the malady. Peroxisomal disorder is a genetic illness that occurs because of an absence of peroxisomal enzymes within the cells based on biochemical reactions. However, even though it is an inherited illness, it does not strike every child in the family and can often skip a generation.

The general symptoms that comprise about 12 in number are cited below:

-Seizures or convulsions

-Extreme muscle tone and also lack of muscle tone – two glaring differences but part of the same problem

-Misshapen craniofacial appearance

-A dysfunction of the nerves or neurological dysfunction

-An enlarged liver

-Cholestasis (limited bile or practically no bile secreted)

-Shortened limbs

-Cysts in the kidneys

-Extremely high bilirubin levels in the blood stream

-Brain malformation because of abnormally high neuronal migrations

This newly recognized genetic disorder is caused because of a single enzyme that is important for the peroxisome function. Based on the symptoms, the genetic specialist has to ascertain what he/ she will do at either the onset or during the progression of the disease.

There are risks associated with various therapies that can affect normal functioning of the patient and later on as an assisted way towards a better quality of life. One of the treatments is to get to the specifics of the disorder and based on that the acid levels may have to be reduced. A change in diet can help with the problem, such as avoiding red meat beef, lamb, processed cheese or even the soft variety, butter and certain fish. Excluding these from the diet can reduce the levels of irregular blood and tissue, thereby improving the health of the patient. If the patient follows all the instructions suggested by a specialist, he/she can lead a relatively normal life and can reverse the symptoms. There are many experimental treatments available but unless they show promise, the doctors never suggest them. It is therefore wise to also read up on any new remedy and keep the doctor apprised of the development, so that he/she can handle the issue.

Parents usually know what is wrong with their babies from the time they are born – it is instinct. In addition, if either the mother or the father has doubts, it is best to address these with the doctor. If there is a history of any genetic disorder in the family, prior to conception, the couple with the help of the specialist should determine if they want to procreate or not. Since the order of marriage is usually to bring a child into the union, it is wise to ascertain the best methods possible in case of the eventuality of an inherited disease. As it stands today, there are treatments available for practically any health related issue. However, not everything works a hundred percent and that is why it is important to bring any noticeable problem to the doctor\’s attention after the birth of the baby.

Dr. James S. Pendergraft opened the Orlando Women\’s Center in March 1996 to provide a full range of health care for women.
http://www.womenscenter.com/

Dr. James S. Pendergraft opened the Orlando Women\’s Center in March 1996 to provide a full range of health care for women.
http://www.womenscenter.com/

Author Bio: Dr. James S. Pendergraft opened the Orlando Women\’s Center in March 1996 to provide a full range of health care for women.
http://www.womenscenter.com/

Category: Medicines and Remedies
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