Krabbe Disease
Genetic Components of the Disease
Metabolic Components of the Disease
Causes of the disease
Symptoms of the disease
Diagnosis of the disease
Treatment of the disease
Cord Blood Transfusion
Treatment for Late on-set Form
Gene Therapy
Incidence and Longevity of the disease
Socioeconomic Factors
Krabbe disease, also referred as globoid cell leukodystrophy (GLD), causes a deficiency in galactocerebrosidase (GALC), the enzyme responsible for preventing a build-up of galactolipids in the brain. Without the regulation of galactolipids, the growth of the myelin sheath around the nerve cells is severely impaired. Krabbe disease usually presents in first 6 months of the life. A child in the last stages of Krabbe disease is immobilized and has decreased level of responsiveness. Most of them die at the age of 2. (Lantos, 2011)
Genetic Components of the Disease
GLD is one of the subgroup of metabolic disorders called leukodystrophies. The leukodystrophies are caused by a variety of gene mutations. Gene carries an inherited code of instructions that tells the body how to make every cell and substance in the body. Myelin is damaged due to genetic mutation. Myelin is actually the lip / fat surrounding axon nerve which carries signal to central nervous system.The myelin sheath is similar to the insulation on a wire. It enables the axons to carry signals very quickly. When the myelin sheath is damaged, the signals slow down or may stop completely. Genetic mutation affects an enzyme called galactocerebrodase (GALC) in the patients having GLS which results in the damage of the central nervous system. A person gets the disorder when he or she inherits the gene mutation from both parents. The disease can appear soon after birth (Early on-set Krabbe disease) or in older children or adults (Late on-set Krabbe disease). (Orchard, 2013)
Metabolic Components of the Disease
The metabolic processes of Krabbe are very complicated. As the axon nerve grows, myelin is deformed and broken down over time. The problem in this breakdown will cause the symptoms of lukodystrophy as it affects the nervous system. Galactosylceramide is an important component of myelin sheath and are in fats or lipids in nature. Oligodendrocytes are the synthesizing cells of myelin in the central nervous system and are destroyed when psycho sine (lipid formed due to cerebroside breakdown) is not destroyed.
Causes of the disease
The Krabbe disease is caused when the scavenger cells internalize cerebroside and become large lipid containing “globoid cells.” The presence of globoid cells is a critical diagnostic feature of this condition, which is also known as globoid cell Leukodystropy. When tissues from people with Krabbe disease are examined under the microscope these cells can be seen in white matter, as well as the kidney. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosyceramidase)(Rosenberg, 2008).
Symptoms of the disease
The early symptoms of Krabbe that are presented to doctors include:
Changing muscle tone from floppy to rigid.
Hearing loss that leads to deafness.
Feeding difficulties. (Rosenberg, 2008)
Irritability and sensitivity to loud sounds.
Severe seizures.
Unexplained fevers.
Vision loss that leads to blindness.
Vomiting.
The symptoms of late-onset Krabbe disease may include vision problems, followed by walking difficulties and rigid muscles. Symptoms vary from person to person.
Diagnosis of the disease
GLD can be measured by testing a sample of blood or skin cells to measure the activity level of the enzyme GALC. Patients with GLD show very low GALC activity level. A doctor may also do a spinal tap to get the sample of the fluid around the spinal cord. In patients with GLD, the fluid has very high level of protein. Families affected by GLD may want to talk to a genetic counselor about family planning and the chances of having children with the disorder (Orchard, 2013).
To confirm the diagnosis, the doctor might recommend one or more of the following tests:
Imaging scans of the brain and head.
Nerve conduction studies.
Eye examination.
Genetic testing.
Before birth, a fetus can be screened for Krabbe disease. The cells in amniotic fluids are withdrawn from fetus and examined. Diagnosis for Krabbe can also be made examining the activity of GALC enzymes (Orchard, 2013)
Treatment of the disease
Treatment for Krabbe disease depends on which type of disease a person has. The only known treatment that has some effect on the progression of the disease is a bone marrow or cord blood transplant. The healthy cells received in the transplant can make the GALC enzyme which was missing in the body. Though it has serious risks and is not an option for all patients, a transplant can be life- saving and prevent severe disability for some people with GLD (Staff, 2011).
Cord Blood Transfusion
It has been seen that blood transfusion of blood stem cells which are taken form umbilical cord od any unrelated donor can play an important role in the reduction of neurological symptoms in infants. If this is done before the symptoms are appeared, it is possible that the child can maintain his/her vision and hearing ability.
Treatment for Late on-set Form
The people with late on-set Krabbe disease have benefited from treatment with umbilical cord blood stem cells, although this treatment has been most successful in pre-symptomatic patients with the early on-set form of the disease. In cases, where the treatment has been successful, neural deterioration is slowed and symptoms are less severe.
Gene Therapy
Gene therapy is a new method which attempts to provide working copies of genes to people with non-working copies. The DNA sequence of a working gene is placed into the person with an enzyme deficiency. Working enzyme would be made by the person’s “new” cells and degrade whatever substance has been stored.
Incidence and Longevity of the disease
In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel.
The Early on-set form of Krabbe disease is usually fatal before the age of two. Those infants who receive cord blood stem cells before the appearance of symptoms have longer lifespans.
Those with Late on-set Krabbe disease usually live between 2 and 7 years after the on-set of symptom. (Tegay, 2012)
Socioeconomic Factors
Taking care of a child with Krabbe disease is a very tough job. It is not possible to do it alone. One has to become a social outcast. Since it does not have a complete cure, therefore the person is completely dependent on others. Some children need therapy even if they get treatment. Some require blood transfusion, which puts an economic pressure too. The cost of treatment is high. It is seen that Krabbe develops more in Israel than population at large. In United States it affects every 1 person in 100,000 populations (Mayo Clinic Staff, 2011). There are many organizations working all over the world to provide support to those who are suffering from Krabbe.
Conclusion
It is very important for people to be aware about the severity of this disease. Since it has a genetic aspect and is carried, any couple who is a carrier or have a family member who has this disorder should consult the doctor in order to get a complete picture about the disease and its risks. It is very important to have a screening test for to-be-born children so that their treatment can be carried out as soon as they are born and can have a better chance to fight it. New York has adopted such infant screening program which is veryaffective because the early detection can improve the quality of life for the child. Hence, early detection is the key to fight the disease. Otherwise, they will have to suffer painful complications like blindness and deafness. The only way to prevent it is the parenting test for couples who are considering having children.
Bibliography
(2011). The Case of Krabbe Disease. In J. Lantos, Dangerous and Expensive Screening and Treatment for Rare Childhood Diseases. Kansas City, Missouri.
Mayo Clinic Staff. (2011, June). Mayo Clinic. Retrieved March 2013, from Krabbe Disease: http://www.mayoclinic.com/health/krabbe-disease/DS00937/DSECTION=risk-factors
Orchard, P. (2013). National Marrow Donor Program. Krabbe Disease.
Rosenberg, R.N. (2008). The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. Lippincott Williams & Wilkins.
Staff, M.C. (2011). Tests and Diagnosis. Krabbe Disease.
Tegay, DH (2012, November 9). Medscape Reference. Krabbe Disease.
Are you busy and do not have time to handle your assignment? Are you scared that your paper will not make the grade? Do you have responsibilities that may hinder you from turning in your assignment on time? Are you tired and can barely handle your assignment? Are your grades inconsistent?
Whichever your reason is, it is valid! You can get professional academic help from our service at affordable rates. We have a team of professional academic writers who can handle all your assignments.
Students barely have time to read. We got you! Have your literature essay or book review written without having the hassle of reading the book. You can get your literature paper custom-written for you by our literature specialists.
Do you struggle with finance? No need to torture yourself if finance is not your cup of tea. You can order your finance paper from our academic writing service and get 100% original work from competent finance experts.
Computer science is a tough subject. Fortunately, our computer science experts are up to the match. No need to stress and have sleepless nights. Our academic writers will tackle all your computer science assignments and deliver them on time. Let us handle all your python, java, ruby, JavaScript, php , C+ assignments!
While psychology may be an interesting subject, you may lack sufficient time to handle your assignments. Don’t despair; by using our academic writing service, you can be assured of perfect grades. Moreover, your grades will be consistent.
Engineering is quite a demanding subject. Students face a lot of pressure and barely have enough time to do what they love to do. Our academic writing service got you covered! Our engineering specialists follow the paper instructions and ensure timely delivery of the paper.
In the nursing course, you may have difficulties with literature reviews, annotated bibliographies, critical essays, and other assignments. Our nursing assignment writers will offer you professional nursing paper help at low prices.
Truth be told, sociology papers can be quite exhausting. Our academic writing service relieves you of fatigue, pressure, and stress. You can relax and have peace of mind as our academic writers handle your sociology assignment.
We take pride in having some of the best business writers in the industry. Our business writers have a lot of experience in the field. They are reliable, and you can be assured of a high-grade paper. They are able to handle business papers of any subject, length, deadline, and difficulty!
We boast of having some of the most experienced statistics experts in the industry. Our statistics experts have diverse skills, expertise, and knowledge to handle any kind of assignment. They have access to all kinds of software to get your assignment done.
Writing a law essay may prove to be an insurmountable obstacle, especially when you need to know the peculiarities of the legislative framework. Take advantage of our top-notch law specialists and get superb grades and 100% satisfaction.
We have highlighted some of the most popular subjects we handle above. Those are just a tip of the iceberg. We deal in all academic disciplines since our writers are as diverse. They have been drawn from across all disciplines, and orders are assigned to those writers believed to be the best in the field. In a nutshell, there is no task we cannot handle; all you need to do is place your order with us. As long as your instructions are clear, just trust we shall deliver irrespective of the discipline.
Our essay writers are graduates with bachelor's, masters, Ph.D., and doctorate degrees in various subjects. The minimum requirement to be an essay writer with our essay writing service is to have a college degree. All our academic writers have a minimum of two years of academic writing. We have a stringent recruitment process to ensure that we get only the most competent essay writers in the industry. We also ensure that the writers are handsomely compensated for their value. The majority of our writers are native English speakers. As such, the fluency of language and grammar is impeccable.
There is a very low likelihood that you won’t like the paper.
Not at all. All papers are written from scratch. There is no way your tutor or instructor will realize that you did not write the paper yourself. In fact, we recommend using our assignment help services for consistent results.
We check all papers for plagiarism before we submit them. We use powerful plagiarism checking software such as SafeAssign, LopesWrite, and Turnitin. We also upload the plagiarism report so that you can review it. We understand that plagiarism is academic suicide. We would not take the risk of submitting plagiarized work and jeopardize your academic journey. Furthermore, we do not sell or use prewritten papers, and each paper is written from scratch.
You determine when you get the paper by setting the deadline when placing the order. All papers are delivered within the deadline. We are well aware that we operate in a time-sensitive industry. As such, we have laid out strategies to ensure that the client receives the paper on time and they never miss the deadline. We understand that papers that are submitted late have some points deducted. We do not want you to miss any points due to late submission. We work on beating deadlines by huge margins in order to ensure that you have ample time to review the paper before you submit it.
We have a privacy and confidentiality policy that guides our work. We NEVER share any customer information with third parties. Noone will ever know that you used our assignment help services. It’s only between you and us. We are bound by our policies to protect the customer’s identity and information. All your information, such as your names, phone number, email, order information, and so on, are protected. We have robust security systems that ensure that your data is protected. Hacking our systems is close to impossible, and it has never happened.
You fill all the paper instructions in the order form. Make sure you include all the helpful materials so that our academic writers can deliver the perfect paper. It will also help to eliminate unnecessary revisions.
Proceed to pay for the paper so that it can be assigned to one of our expert academic writers. The paper subject is matched with the writer’s area of specialization.
You communicate with the writer and know about the progress of the paper. The client can ask the writer for drafts of the paper. The client can upload extra material and include additional instructions from the lecturer. Receive a paper.
The paper is sent to your email and uploaded to your personal account. You also get a plagiarism report attached to your paper.
GET A PERFECT SCORE!!! 
Delivering a high-quality product at a reasonable price is not enough anymore.
That’s why we have developed 5 beneficial guarantees that will make your experience with our service enjoyable, easy, and safe.
You have to be 100% sure of the quality of your product to give a money-back guarantee. This describes us perfectly. Make sure that this guarantee is totally transparent.
Read moreEach paper is composed from scratch, according to your instructions. It is then checked by our plagiarism-detection software. There is no gap where plagiarism could squeeze in.
Read moreThanks to our free revisions, there is no way for you to be unsatisfied. We will work on your paper until you are completely happy with the result.
Read moreYour email is safe, as we store it according to international data protection rules. Your bank details are secure, as we use only reliable payment systems.
Read moreBy sending us your money, you buy the service we provide. Check out our terms and conditions if you prefer business talks to be laid out in official language.
Read more