September 22, 2023


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Patients Diagnosed with Krabbe Disease: Its Diagnosis and Treatment

Patients Diagnosed with Krabbe Disease: Its Diagnosis and Treatment

Hematopoietic stem cell transplants are used to reduce the stress of patients diagnosed with Krabbe disease.

This deadly disease caused by metabolic disorders inherited from the parents. Science is still not able to find its proper cure. Hematopoietic stem cell transplants are used to reduce the stress of patients diagnosed with Krabbe disease.

Patients diagnosed suffer from problems like muscle weakness, numbness, pain, and tingling sensations in different body parts. Go through the article to get the details in deptth.

Cause of Krabbe disease

Krabbe disease is caused by a gene mutation, like Gaucher’s disease, in the galactosylceramide gene. It is responsible for the breakdown of galactolipids and certain fats, which protect the myelin sheath.

The defect in the gene leads to improper metabolism of the enzymes essential for the myelin sheath and lead to its breakdown. 

Symptoms of Krabbe disease

You need to know about the symptoms. This deadly disease can be easily detected, if you notice the symptoms in time. Below are some that also resemble Gaucher disease symptoms.

  • Severe deterioration of muscles: When the person suffers from Krabbe disease deterioration of muscles happens due to the lack of an enzyme named galactocerebrosidase. It leads to lesser muscle contraction, resulting in muscle deterioration.
  • Hypertonia: Due to the lack of communication between the central nervous system and other body parts, hypertonia occurs, during which the person finds a lots of difficulty moving their muscles.
  • FeverUsually, a high temperature is a common issue observed in the person suffering. The reason behind this is the severe pain due to the discomfort.

Treatments for Krabbe disease

Until now, no specific treatment or medication has been discovered that can cure this fatal issue.

Although a specific treatment is not available, some processes like BMT, or Blood Stem Cell Transplant, can reduce the effects of this fatal disease. This transplantation of stem cells can prevent further damage to the body.

During this process, the affected cells are removed, along with the blood-forming cells that cannot fight against the pathogens due to a lack of protein. 

Diagnosis of Krabbe disease

The fatal disease, popular as globoid cell leukodystrophy, is due to a broken gene. Persons suffering from this cannot form an enzyme named galactosylceramide.

Doctors do several clinical tests to check if the person is a patient of Krabbe disease or not.

Several blood tests to check for proper blood flow or infected blood-forming cells are done by the experts.

An additional method also includes the amniocentesis test or chronic villus sampling, which is very effective in detecting the affect of it on a baby in a mother’s womb.

A certain breakdown in the myelin sheath and defective blood-forming cells can cause several issues. Medication with proper analogies for patients diagnosed with Krabbe disease can reduce the fatal effects by increasing the amount of protein content delivered to the existing ones.

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