Insights on Galactocerebrosidase Deficiency

Randy Carter^*
*Correspondence: Randy Carter, Department of Laboratory Medicine and Pathology, University of Mississippi Medical Center, North State Street, MS 39216, USA, Email:

Introduction

Myelin, the protective covering that covers nerve cells in the brain and the rest of the nervous system, is destroyed in Krabbe disease, a genetic condition. Most often, Krabbe disease appears in infants before they are six months old, and most cases of the condition result in death by the time they are two years old. The disease's progression can be very different in older kids and adults. Krabbe disease has no known treatment; it is mostly managed on a supportive basis. However, stem cell transplants have shown some success in some older adolescents and adults, as well as in infants treated before symptoms develop. When a person receives two copies of a defective (mutated) gene from each parent, Krabbe disease is caused [1].

Description

Proteins are made according to a gene's blueprint. If there is a mistake in this blueprint, the protein product might not work properly. In the instance of Krabbe illness, two mutant copies of a particular gene cause little to no production of an enzyme called galactocerebrosidase (GALC). In the cell's recycling centre, enzymes like GALC are in charge of breaking down specific chemicals (lysosome). Lack of GALC enzymes results in the accumulation of particular types of fats known as galactolipids in Krabbe disease. In some older children and adults, as well as prior to the start of symptoms. Galactolipids are typically found in the cells that create and maintain the protective coats on nerve cells (myelin). Overproduction of galactolipids, on the other hand, is toxic. Some galactolipids cause self-destruction of myelin-forming cells [2].

Microglia are specialist debris-eating cells in the nervous system that take in more galactolipids. These typically helpful cells become aberrant, harmful cells known as globoid cells during the removal of excess galactolipids, which produce inflammation that damages myelin. Nerve cells cannot send and receive messages when myelin, or demyelination, occurs. A lab will examine a blood sample to check the activity of the GALC enzyme. Low or absent GALC activity levels may be a sign of Krabbe illness. The results help a doctor diagnose the patient, but they do not show how quickly the illness might advance. For instance, relatively low GALC activity does not always portend a rapid course of the illness. Your physician might prescribe one or more imaging tests to detect myelin loss (demyelination) in affected brain regions [3].

A genetic test may be performed on a blood sample to validate a diagnosis. The gene that has been altered to generate Krabbe disease comes in several forms. Benefits from the particular mutation type could exist. The GALC enzyme's activity is evaluated during the initial screening procedure [4,5]. Additional GALC and genetic testing are run if the enzyme activity is determined to be low. Newborn screening tests are only just beginning to be used. Researchers are still attempting to understand the best ways to apply these tests, how well they provide an accurate diagnosis, and how well they forecast the course of the disease. Finding Krabbe disease markers before symptoms arise, according to studies to date, may lead to the development of a novel treatment. As of right now, there is no cure for Krabbe disease in infants who have already manifested symptoms. As a result, supportive care and symptom management are the main goals of treatment. Any of the following could be considered an intervention: anticonvulsant drugs to regulate seizures, medicines for irritation and muscle spasticity, Physical treatment to stop the loss of muscular tone nutritional support, including using a tube to administer calories and fluids directly to the stomach (gastric tube) [4,5].

Conclusion

Specialized cells called hematopoietic stem cells can develop into every form of blood cell in the body. Microglia, specialised cells that dwell in the nervous system and consume detritus, are also produced by these stem cells. In Krabbe illness, microglia undergo a transformation into poisonous globoid cells. During a stem cell transplant, the recipient's blood is infused with donor stem cells using a tube called a central venous catheter. The body uses the donor stem cells to help create healthy microglia that can populate the nervous system and provide functional GALC enzymes. Some of the normal myelin formation and maintenance may be restored with the help of this therapy.

Acknowledgement

None.

Conflict of Interest

None.

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