What You Need to Know About Krabbe Disease

Krabbe Disease in Infants: Causes, Symptoms & Treatment

Krabbe Disease, commonly known as KD, is a rare and complex genetic disorder that affects the spinal cord, brain, and nerves of an individual. Newborns with this disease face a deficiency of the enzyme galactocerebrosidase, also known as GALC. This enzyme helps in the further breakdown of toxic chemicals in the body.

Thus, without this enzyme, myelin loss occurs, leading to nerve damage. This nerve damage prevents the brain from sending signals to the body, causing symptoms of Krabbe disease.

Who Gets Affected by Krabbe Disease?

Krabbe disease primarily affects infants between 1 and 7 months of age, known as the infantile form. A rarer, late-onset form may appear in adolescence or adulthood. It is a genetic disorder, meaning it is inherited from biological parents who pass on the defective gene responsible for the condition to their children.

How Common is the Krabbe Disease?

Krabbe disease is quite rare, and the frequency of this condition varies significantly all over the world. It affects about 1 in 100,000 births globally, but data from India remains limited due to underdiagnosis and lack of widespread newborn screening. Awareness among healthcare providers is growing, yet early detection and access to genetic testing are still challenges in many parts of the country.

What Causes Krabbe Disease?

Krabbe disease is a rare genetic disorder caused when a child inherits two faulty copies of the GALC gene, one from each parent. Parents who carry one abnormal GALC gene alongside a normal one are known as carriers and typically show no symptoms.

However, if both parents are carriers and each passes on the defective gene, the child will develop Krabbe disease, which leads to serious neurological symptoms due to the breakdown of protective nerve coverings.

What are the treatments and therapies for Krabbe disease?

Some treatment and therapy options used for Krabbe disease are:

• Stem Cell Transplantation: Krabbe disease is not curable. Children before experiencing any significant symptoms of this disease are eligible for a stem cell transplant, which further slows down the progression of this rare condition.

Stem cell transplantation is only a viable option for infants who are presymptomatic (showing no signs of the disease). The procedure is most effective when performed as early as possible, ideally before the typical onset of symptoms (which is often between 1-7 months of age). This highlights the critical importance of early diagnosis through newborn screening, where available, to identify affected infants before symptoms begin.

• Gene Therapy: There is ongoing research on gene therapy. This therapy is expected to replace the abnormal GALC genes. However, this kind of treatment is not yet available in India.

How Can Krabbe Disease Be Prevented?

Krabbe disease is inherited when a child receives two faulty genes, one from each parent. If both biological parents are carriers, there is a 25% chance their child will develop the condition. To assess this risk, a simple blood test can determine carrier status. This is especially important for those with a family history of the disease.

While choosing not to have biological children eliminates the risk entirely, doctors strongly recommend genetic counselling for at-risk individuals who are planning to conceive. Counselling provides informed guidance on reproductive options and helps families make well-considered decisions.

Krabbe disease is a devastating yet rare genetic disorder that primarily affects infants, leading to severe neurological damage due to the loss of protective nerve coverings. Although there is currently no cure, early diagnosis and timely interventions, such as stem cell transplantation, can slow disease progression and improve quality of life.

Preventive measures, including genetic testing and counselling, play a crucial role for at-risk families. Increasing awareness, expanding newborn screening, and advancing research are essential steps toward better outcomes and potential future therapies for those affected by this life-altering condition.