About Infantile Krabbe disease

What is Infantile Krabbe disease?

Infantile Krabbe disease is a rare, inherited disorder that affects the nervous system. It is caused by a deficiency of an enzyme called galactocerebrosidase, which is responsible for breaking down certain fats in the body. Symptoms of the disease usually appear in infancy and include developmental delays, muscle weakness, vision and hearing loss, and seizures. If left untreated, the disease can be fatal.

What are the symptoms of Infantile Krabbe disease?

The symptoms of Infantile Krabbe disease can vary, but typically include:

-Delayed development

-Muscle weakness

-Loss of previously acquired skills

-Seizures

-Vision and hearing loss

-Feeding difficulties

-Loss of coordination

-Loss of reflexes

-Irritability

-Spasticity

-Difficulty breathing

-Difficulty swallowing

-Abnormal movements

-Loss of muscle tone

-Enlarged liver and spleen

-Abnormal heart rate

-Abnormal blood pressure

-Abnormal breathing patterns

-Abnormal sleep patterns

-Abnormal body temperature

What are the causes of Infantile Krabbe disease?

Infantile Krabbe disease is caused by a genetic mutation in the GALC gene, which is responsible for producing an enzyme called galactocerebrosidase. This enzyme is responsible for breaking down certain fats in the body, and when it is not produced in sufficient amounts, the fats accumulate and cause damage to the nervous system.

What are the treatments for Infantile Krabbe disease?

The primary treatment for Infantile Krabbe disease is a bone marrow or cord blood transplant. This procedure replaces the defective cells with healthy cells from a donor. Other treatments may include physical therapy, occupational therapy, speech therapy, and nutritional support. In some cases, medications may be prescribed to help manage symptoms.

What are the risk factors for Infantile Krabbe disease?

1. Genetic predisposition: Infantile Krabbe disease is an inherited disorder caused by mutations in the GALC gene.

2. Ethnicity: Infantile Krabbe disease is more common in certain ethnic groups, such as Ashkenazi Jews, Finnish people, and Native Americans.

3. Family history: Infantile Krabbe disease is more likely to occur in families with a history of the disorder.

4. Low birth weight: Low birth weight is associated with an increased risk of Infantile Krabbe disease.

Is there a cure/medications for Infantile Krabbe disease?

Unfortunately, there is no cure for Infantile Krabbe disease. However, there are medications that can help manage the symptoms and slow the progression of the disease. These medications include enzyme replacement therapy, physical therapy, occupational therapy, speech therapy, and nutritional support.