Krabbe Disease Research Paper

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Krabbe disease (also known as globoid cell leukodystrophy) is defined as a degenerative disorder that affects the nervous system. According to the U.S. National Library of Medicine (2011) Krabbe disease is brought about by galactosylceramidase deficiency, which is an enzyme which assists in myelin maintenance which is a protection around some nerve cells responsible for transmission of nerve impulses.

The medics have suggested that this deficiency is inherited and leads to the loss of myelin which covers the nerve cells and expedites cell communication.

Krabbe Disease is also referred to using the below terms; Diffuse Globoid Body Sclerosis, Galactosylceramidase Deficiency Disease, Galactosylceramide lipidosis, galactosylcerebrosidase deficiency, galactosylsphingosine lipidosis, GALC deficiency, GCL, GLD and psychosine lipidosis as the recognized references in the medical practice.

Genetic component of the disease

The Krabbe disease patients are seen to have two copies of the GALC gene both of which are not functional. It is also noted that the biological parents of the patient with Krabbe disease have one normal and functioning GALC gene and the other GALC gene in nonfunctional making the parents healthy carriers.

Incase both parents are carriers then there is a 25% chance of the child to suffer Krabbe Disease. Also the child may have a 50% chance of being a healthy carrier and the chances that he will have two normal GALC genes is 25%. It is also noted that the siblings of the patient of this disease have 66% chance of also suffering from the same as discussed by Health Line, (2011).Download full Download Microsoft Word File
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TOPIC: Research Paper on Krabbe Disease Assignment

The GALC gene is situated on the chromosome 14. It is interesting to note that the rate of exposure to the disease also varies according to ethnicity and race. For instance, Health Line suggests that there is a 45% chance of incurring a disease causing mutation due to deletion of one GALC gene among people of European ancestry and on the other hand those from the Mexican ancestry stand a 35% chance of the same exposure. University of Maryland Medical Center (2009), also suggests that people from Scandinavia are most likely to have the disease.

2. Metabolic Component of Krabbe disease

Krabbe disease has a complex metabolism process. Amie Stanley (2002) breaks it down as follows. Myelin is constantly being built as the nerves grow and at the same time the same myelin is broken down, rebuilt and recycled. The GALC metabolizes carbohydrates, proteins and fats in the human body including the break down of myelin itself. In the patients of Krabbe disease, there is a lack of the GALC enzyme to metabolize the galactosylceramide which are fat contents plus its by-product, psychosine. This results into accumulation of these substances into large globoid cells. This becomes toxic to the body and hinders further production of myelin.

3. Causes of Krabbe disease

This disease is also known as globoid cell leukodystrophy and is quite rare. It is caused by lack of enzyme called galactocerebrosidase

Krabbe disease, also known as globoid cell leukodystrophy, is a rare genetic disorder caused by a deficiency of an enzyme known as galactocerebrosidase. Mayo Clinic (2011) postulates that galactocerebrosidase is necessary for the preservation of myelin, a fatty matter that protects nerve fibers. When galactocerebrosidase is lacking, as is the case with the Krabbe disease patients, molecules that should have been metabolized by the enzyme instead mount up within lysosomes; the storage containers of cells. This is why Krabbe disease is at times referred to as lysosomal storage disorder.

4. Symptoms and signs of the disease

Since Krabbe disease interferes with the central nervous system, it is likely to be accompanied by the following symptoms.

The early symptoms may include the following: There will be changing muscle tone from floppy to rigid also known as decerebrate posturing, Hearing loss that leads to deafness, Failure to thrive, Feeding difficulties, Irritability and sensitivity to loud sounds, Severe seizures and sudden ones that may begin at a very early age, Unexplained fevers may surface, Vision loss that leads to blindness in some cases and Vomiting may suffice in some victims.

The late symptoms may take some or most of the following: Blindness, Deafness, Severe, problems with muscle tone, Failure to Thrive, Seizures, Vision Problems, Blindness, uncoordinated Movement and Muscle Cramps.

5. How and when do patients present to the doctor?

This disease usually shows up very early in the infancy barely a few months old and in cases of late-onset it can be at adolescence (New York Times, 2011). Most parents or guardians will present the patients display symptoms of seizure, abnormal posturing and falling unconscious. These are dangerous signs and the patient should hence be taken to the hospital fast.

6. What makes the doctor think of this disease as the cause of the patient's troubles?

There are reasonable signs that a doctor may use to suspect that the patient has krabbe disease and recommend further diagnosis on a patient. Hussain SA (2011) says that the patient may display excessive irritability, developmental delay, muscle hypertonicity, peripheral neuropathy, optic nerve atrophy, failure to thrive and seizures. The doctors can, in rare conditions, detect proximal prechiasmatic enlargement of the nerves.

7. How is the disease diagnosed?

Once the patient is brought to the hospital, the doctors will conduct several test and diagnosis on the patient. These will involve conducting physical examination to verify the availability of the symptoms of the disease.

The doctor will also take blood samples and a skin sample for laboratory analysis, where the activities of the GALC enzyme will be measured. If the activity is found to be low, then the patient might be having Krabbe disease. These tests will however not show the rapidity of the activity of the disease but just confirms the presence of the disease as indicated by Mayo Clinic (2011). For a confirmation of the disease, there can be further diagnostic process as suggested by Cable News Network (2009) below:

Magnetic Resonance Imaging (MRI): this is the use of magnetic signals to create the images of the brain. This way, any abnormal development of the brain, a thing that is characteristic of Krabbe disease patients. A CT scan which is computer enhanced is also used in detecting this abnormal growth.

Nervous conduction studies: is measuring the velocity of impulses sent through the nervous system. This can be through stimulation of nerves and taking the time it takes to reach the recording device. In the presence of Krabbe disease, then the transmission will be slower.

Eye examination: an ophthalmologist (specialist in the eye) can look for any signs of visual deterioration on the retina

Genetic testing: this can involve the look into the genetic mutations that are associated with the disease.

Doctors can also draw the amniotic fluid from the pregnant women and screen the cells in the fluid for any activities of the GALC enzymes.

8. Treatment of Krabbe disease

The Krabbe disease has for long not had any mitigation in the medical circles, indeed even to date there are some medics who are still skeptical about the medication that are in existence. However, there was a study on some 5 children treated with hematopoietic stem cell transplantation. There was a noticeable reversal or retardation of the disease exhibited among them, it was however noted that early detection and constant monitoring was essential as indicated by Alexander C. Guo, (2001).

The other treatment that has been proven to reduce the effects of the disease is the implanting umbilical cord blood stem cells from unrelated donors prior to symptom onset. This is noted by the National Institute of Neurological Disorders and Stroke (2010) to reduce heavily the manifestations of the symptoms in the later life after birth.

9. Challenges and help for Krabbe disease patients

The patients of this disease can face social discrimination if the late onset is the… [END OF PREVIEW] . . . READ MORE

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APA Style

Krabbe Disease.  (2011, April 11).  Retrieved September 18, 2021, from

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"Krabbe Disease."  11 April 2011.  Web.  18 September 2021. <>.

Chicago Style

"Krabbe Disease."  April 11, 2011.  Accessed September 18, 2021.