KRABBE DISEASE

Globoid cell leukodystrophy, another name for Krabbe disease, is an uncommon hereditary neurological disorder. Krabbe disease belongs to a class of diseases called leukodystrophies, caused by demyelination, or the loss of myelin in the nervous system. Every nerve cell has a protective sleeve called a myelin sheath around it to facilitate the quick passage of nerve messages.

The myelin sheathThe myelin sheath

It results from the deficiency of an enzyme called galactocerebrosidase, accumulating toxic substances in the brain and causing progressive neurological symptoms, including muscle weakness, loss of vision and hearing, and developmental regression. Krabbe disease typically leads to a shortened lifespan, and there is currently no cure.

Large, aberrant cells in your brain known as globoid cells—which typically have many nuclei—are another hallmark of the condition.

Demyelination leads to the death of brain cells, which progressively aggravates neurological conditions such as:

Impairment of intellect.

There are four subtypes of Krabbe disease based on the timing of symptom onset:

Early baby stage: 0–13 months

13–36 months is the late infantile kind.

Juvenile: aged three to sixteen

Adult type: older than sixteen

Causes of Krabbe Disease

A genetic mutation, or a long-term alteration in the DNA sequence that comprises a particular gene, is the cause of Krabbe disease. The product for which the mutation impacts the gene codes.

On chromosome 14, the gene for Krabbe disease is located. For a child to have the illness, they must receive the faulty gene from both parents. The defective gene causes a deficiency in galactosylceramidase (GALC), a vital enzyme required by your body.

Late-onset instances, however, have a slightly different gene mutation. The enzyme GALC breaks down the molecules of psychosine and galactosylceramide in the brain. Patients with Krabbe disease may exhibit 100-fold increased levels of psychosine compared to healthy individuals.

Symptoms of Krabbe Disease

The Krabbe illness has varying symptoms as per degrees of severity.

Krabbe disease often advances more quickly the sooner an individual has the condition. The symptoms of Krabbe disease in adults may be milder than in newborns.Microscopic view of brain from a case of globoid cell leukodystrophy

Microscopic view of brain from a case of globoid cell leukodystrophy

Krabbe’s disease with an early start

Babies afflicted by the illness may:

Overly irritated

Swallowing problems

Puking

Fever without a cause

Partial unconsciousness

They can be extremely sensitive to noises, which might lead to sudden shocks. Seizures and spastic contractions in the lower extremities are examples of limb problems that may potentially manifest. There are moments when the legs are erect at the hip and knee. One may bend the fingers, toes, and ankles. Peripheral neuropathy, delayed mental and physical growth, and blindness are possible side effects.

Krabbe disease with a late start

When Krabbe disease affects older children and teenagers, symptoms of late-onset include:

loss of voluntary movement control.

A steady loss of eyesight

Legs’ muscles becoming stiffer.

Treatment Options for Krabbe Disease

Krabbe disease currently has no known treatment. The goal of supportive therapy is to assist children with Krabbe disease to manage their symptoms better and live happier, healthier lives.

Among them are:

Medication to treat seizures and muscular spasms.

Physical therapy for assistance in mobility.

Occupational therapy to assist with tasks of everyday life.

Comfort care is often known as palliative care.

Several children’s lives have been prolonged via umbilical cord blood transplantation. Though lost function cannot be restored, it can halt the disease’s development. Not all children are candidates for transplants, but your child’s physician may talk to you about this possibility.

A limited number of patients have undergone stem cell treatment and bone marrow transplantation. Additionally, gene therapy is a medicine that is employed in clinical studies.

The carriers’ decision to forgo having children is the only option to minimise the danger. A blood test can determine if the parents contain the Krabbe disease gene. This is a good idea, particularly if the condition runs in the family. Prenatal screenings can check for Krabbe disease in the fetus if there is a family history of the illness.