Questions and answers

Is Krabbe disease curable?

Is Krabbe disease curable?

Right now, there is no cure for Krabbe disease. Children with this disease benefit from supportive therapy, and closely following the progression of their disease. An umbilical cord blood transplant has extended many children’s lives.

How is Krabbe disease inherited?

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

What is the cause of Krabbe disease?

A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance (enzyme) called galactocerebroside beta-galactosidase (galactosylceramidase). The body needs this enzyme to make myelin. Myelin surrounds and protects nerve fibers.

What is Krabbe disease life expectancy?

What is the long-term outlook for people with Krabbe disease? On average, infants who develop Krabbe disease will die before age 2. Children who develop the disease later in life will live a bit longer, but typically die between 2 and 7 years after they’re diagnosed.

Can adults have Krabbe Disease?

While most patients present with symptoms of spasticity, developmental delay, and irritability before 6 months of age, the disorder has also been diagnosed in older patients, including adults.

Can adults have Krabbe disease?

How is Krabbe disease related to leukodystrophy?

Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals.

When does Krabbe disease occur in an adult?

Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.

Why is Krabbe disease called globoid disease?

This name comes from a characteristic pathology of Krabbe disease, where a specific type of cell (called the macrophage) accumulates high levels of undegraded galactolipids as a result of the lack of GALC activity. These cells look different from healthy cells, and are termed globoid cells

Are there any other animals that have Krabbe disease?

This disease does not only impact humans, but other animals such as monkeys, mice, and dogs have been observed to develop Krabbe disease as well. While certain gene deletions are more frequent than others, novel mutations resulting in Krabbe disease have been discovered worldwide.