Krabbe Disease: Symptoms and Causes of this Dangerous Genetic Disorder

Krabbe disease is a rare inherited neurological disorder that falls under the category of leukodystrophies. The loss of myelin, a protective layer for the nerve cells, is the main reason behind leukodystrophies, which leads to neurological disorders.

Krabbe disease, also known as globoid cell leukodystrophy, is named after the Danish scientist Knud Krabbe, who identified this disease for the first time.

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Who Is Affected by Krabbe Disease?

Krabbe is a neurological disease that leads to death in infants, however, it can be slowed down using treatment (Image by jcomp on Freepik)

The main victims of Krabbe disease are infants under the age of one, and this is the infantile form of the condition. Furthermore, it can also affect older children and adults, marking the adult form of the condition. In this case, the symptoms are visible only after 18 months or later in adulthood.

This disease is passed onto offsprings by the biological parents due to genetic mutations. The frequency of Krabbe diseases varies based on various regions, with a higher frequency in Israel compared to Europe and USA.

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What are the Symptoms and Causes?

How long can you live with Krabbe disease? (Image by Freepik)

The symptoms can vary based on the age, and the most dangerous is the infant one. It can cause rapid loss of Myelin and lead to death by the age of two. The various symptoms include vomiting, irritation, restlessness, weakness in muscles, and problems in the development of the body. Further symptoms include increasing hypersensitivity in these babies towards touch and noise.

Meanwhile, individuals who are affected at an adult age suffer from vision changes and abnormal gait. One may also suffer from a shortage of breath and seizures. With the late onset of Krabbe disease, the average life expectancy is close to six years.

The cause behind this disease is due to the mutations in the GALC gene. This genetic mutation is due to the shortage of the enzyme galactocerebrosidase. This enzyme is a necessity for the metabolism of galactocerebroside, which is a very important component of Myelin.

The lack of this enzyme causes the Myelin covering to break throughout the course of the central nervous system, which contributes to the symptoms of Krabbe disease.

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Diagnosis and Treatment

Is Krabbe curable? (Image by jcomp on Freepik)

Krabbe can be detected by blood tests and tests like MRI. The latter can help in revealing the brain differences that differentiate a healthy brain from the one associated with this disease.

Moreover, hearing and vision tests can also help in the diagnosis of this disease. In order to avoid such diseases, it is often advised to parents to take genetic counseling and testing to find out the possibility of passing the diseases to the offspring.

When it comes to treatment, there is no known cure for this disease. Once identified, it generally leads to death. However, it is possible to slow down the disease, through Hematopoietic stem cell transplant. This involves transplanting healthy hematopoietic cells from a donor to a child with the disease. This enables the child to repopulate the healthy brain cells and delay the symptoms and improve the enzyme activity.

If the treatment is taken before the onset of the symptoms, it is highly effective for the patient. In addition to this, there are other medications required, which include muscle relaxers, physical therapy, and anticonvulsant medications for seizures.

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In order to prevent Krabbe, the best solution is to undergo genetic therapy, as there is no other solution to prevent it. It is a very rare and inherited disease that mostly results in death since there is no cure for it. Early diagnosis can help in slowing down the disease using specific treatments. Genetic counseling is an essential component of managing this challenging condition