Preview

Fabry Disease Research Paper

Satisfactory Essays
Open Document
Open Document
160 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Fabry Disease Research Paper
The genetic disorder I chose was the Fabry disease.The other names they have for this disorder is alpha-galactosidase alpha.The thing that causes the disorder is the cause of lack or a faulty enzyme needed to metabolize lipids.If there are prenatal tests for this disorder then that means childhood disorders,including autism and Rett syndrome,caused by impairments in brain development.This disorder is treated by a test that measures leukocyte alpha-Gal A enzyme activity.
This disorder can not be prevented because it is inherited.The medical assistance the child will need is to alleviate the symptoms.The child will need further assistance whenever it gets older with the disease because of the uncertainty of what is wrong is done.The long term

You May Also Find These Documents Helpful

  • Good Essays

    Nt1310 Lab 1

    • 829 Words
    • 4 Pages

    1. What does the term genetic disease mean? What examples of generic diseases do you know about?…

    • 829 Words
    • 4 Pages
    Good Essays
  • Powerful Essays

    sporadic new mutation, which happens at conception. Therefore, as mentioned above, the diagnosis must be made…

    • 1791 Words
    • 8 Pages
    Powerful Essays
  • Satisfactory Essays

    Hca 220 Plathens

    • 342 Words
    • 2 Pages

    Describe to a 7th-grade student what they would expect to see if a person was diagnosed with your selected genetic disorder. How would you express the disease symptoms and at least one current…

    • 342 Words
    • 2 Pages
    Satisfactory Essays
  • Good Essays

    While researches are still hard at work figuring out a way to cure this disease there are no known cures. But there treatments to help with some of the symptoms.…

    • 625 Words
    • 3 Pages
    Good Essays
  • Powerful Essays

    But thanks to advancements in early diagnosis and treatment, most kids born with this disorder grow up to live relatively healthy and productive lives.…

    • 1612 Words
    • 7 Pages
    Powerful Essays
  • Good Essays

    English Comp 111

    • 1049 Words
    • 5 Pages

    “One health epidemic at the forefront of public consciousness is autism, a grain disorder that impairs a person’s ability to communicate, socialize and participate in group behavior.” In reading about autism, the diagnostic criteria require that symptoms become apparent before a child is three years old. As stated in Wikpedia under Autism, [2] Autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize; how this occurs is not well understood. [3] Some say that Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations, or by rare combinations of common genetic variants. [5] In rare cases, autism is strongly associated with agents that cause birth defects. [6] Controversies surround other proposed environmental causes, such as heavy metals, pesticides or childhood vaccines.…

    • 1049 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Hca/240 Blood Disorders

    • 893 Words
    • 4 Pages

    Some blood disorders can be prevented while there are others that are out of a person’s hands and have to live with a blood disorder for a life time. It is essential to know the causes of hereditary disease and know how to treat them. It is also important to know what can be done to “cure” other blood disorders and what preventive measures need to be taken in order to stop history from repeating itself. Iron deficiency anemia, sickle cell anemia, and purpura simplex are just a few blood disorders that people suffer from that are either inherited or can be prevented.…

    • 893 Words
    • 4 Pages
    Good Essays
  • Good Essays

    ( healthguide.org) Just because there is no cure it is highly recommended that you start taking care of your body. When you find about the disease you should immediately start eating right and working out. No this won’t stop the disease it will slow the disease down so that you can have more time to be mobile. Some patients start to test their memory and try to improve it as well. Also having support from your loved ones can help a lot in this. Speech therapy is also highly recommend it could be easier for the patient to communicate with their loved ones and…

    • 1057 Words
    • 5 Pages
    Good Essays
  • Good Essays

    Since the test involves taking only a small blood sample, where a person’s DNA can be found, these tests have a minimal health risk. Genetic testing was initially used in pregnancies to test for diseases like Down's Syndrome and other genetic disorders (“What are the...”). However, thanks to more recent improvements, genetic testing has come to display several weaknesses and strengths. The genes that can be obtained from infants can notify parents of possible physical deficiencies, while others may show physical advantages (Stein).…

    • 478 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Gaucher's Disease

    • 632 Words
    • 3 Pages

    Gaucher 's Disease is an autosomal metabolic disorder. This means that it is inherited from both parents. For a child to develop the disease both the mother and the father must to carry the necessary gene. If in fact the child inherits the disease he or she will experience problems with the liver, spleen, lungs, bone marrow, and in some cases the brain. The disease is caused by excessive amounts of a fatty substance called glucocerebroside. Glucocerebroside accumulates in the organs when there is a deficiency of the enzyme, glucocerebrosidase. This particular enzyme helps break down glucocerebroside. Therefore, if there is a lack of the enzyme, the lipid begins to accumulate, and results can be fatal.…

    • 632 Words
    • 3 Pages
    Good Essays
  • Good Essays

    If the child has any of these then the child as well as the parent/carer may have trouble with their development in life.…

    • 756 Words
    • 4 Pages
    Good Essays
  • Good Essays

    Separation Anxiety

    • 928 Words
    • 4 Pages

    This papers purpose is to inform the reader of the symptoms and tips on how this Disorder can be fixed.…

    • 928 Words
    • 4 Pages
    Good Essays
  • Satisfactory Essays

    person centred

    • 844 Words
    • 4 Pages

    An acquired disability is a medical condition that you get later on in life they can form from accidents (such as a car crash), illness or working conditions that expose a person to an unhealthy environment. Examples of acquired disabilities:…

    • 844 Words
    • 4 Pages
    Satisfactory Essays
  • Good Essays

    etiology of the disorder and the treatment methods. The discussion at the end will summarize our findings.…

    • 2798 Words
    • 12 Pages
    Good Essays
  • Better Essays

    Thalassemia Disorders

    • 1913 Words
    • 8 Pages

    At age eleven, I remember my doctor announcing that I had B thalassemia trait minor and I was a carrier. It did not strike me as hard as it did when I found out that a friend’s aunt has recently passed away from being defeated by B Thalassemia Major. In the years to come, I understood that the only way I could make sure I had happy healthy children, was to dive into genetic counseling with whoever was to become my husband. When the time came I was over joyed to find out that my spouse was not a carrier and went on to having two amazing boys. One who is also a carrier of B Thalassemia Trait. The disorder that causes me mild anemia was passed from my paternal grandmother, to my father, to me and my youngest son. I am fortunate and very grateful for the diagnosis at age eleven. I now can ensure that youngest son will go on to raising his very own happy healthy children.…

    • 1913 Words
    • 8 Pages
    Better Essays