Krabbe Disease Research Paper

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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.

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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….....

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