What causes Krabbe disease?

Causes. Mutations in the GALC gene cause Krabbe disease. This gene provides instructions for making an enzyme called galactosylceramidase, which breaks down certain fats called galactolipids. One galactolipid broken down by galactosylceramidase, called galactosylceramide, is an important component of myelin.

What is the function of galactocerebrosidase?

The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche.

What is life expectancy for 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.

What enzyme is missing in Krabbe disease?

Krabbe’s Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine.

Is Krabbe disease treatable?

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.

What is leukodystrophy?

Leukodystrophies are a group of rare, genetic disorders that affect the white matter of the brain. The word leukodystrophy comes from leuko, which means white, and dystrophy, which means imperfect growth. Leukodystrophies are characterized by this abnormal growth of white matter in the brain.

How is Krabbe disease diagnosed?

A genetic test may be done with a blood sample to confirm a diagnosis. There are variant forms of the mutated gene that results in Krabbe disease. The particular type of mutation may provide some clues regarding the expected course of the disease.

Is Krabbe disease a metabolic disorder?

Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells.

Is Krabbe disease like MS?

It is possible that those with this form of Krabbe can be misdiagnosed with diseases such as Multiple Sclerosis. Some symptoms include, but are not limited to: progressive loss of vision, change in gait or difficulty walking (ataxia), loss of manual dexterity, muscle weakness, and pain.