Krabbe Disease

Krabbe disease is a rare genetic condition in which an abnormal accumulation of fat molecules called galactolipids affects the cells in the nervous system. In particular, Krabbe disease affects the cells which produce myelin — the substance that insulates and protects nerve cells. The disease, which is sometimes called globoid cell leukodystrophy or Krabbe’s leukodystrophy, is one of about 50 which are classified as lysosomal storage disorders (LSD), where a genetic variation disrupts the normal activity of lysosomes in human cells.

Lysosomes contain specific proteins (enzymes) responsible for breaking down and recycling molecules such as fats and sugars. Individuals with a lysosomal storage disorder lack one of these necessary enzymes or do not have one of these enzymes in sufficient quantities to break down molecules for proper cell function. As a result, fats and sugars normally broken down by lysosomes can accumulate to toxic levels in the body’s cells and tissues, eventually leading to disease.

Children with Krabbe disease generally develop symptoms in their first year of life. In less common cases, signs and symptoms can develop in childhood, adolescence, or even adulthood.

Symptoms may include:

• Irritability
• Muscle weakness (hypotonia)
• Feeding difficulties
• Unexplained episodes of fever
• Spasticity of extremities
• Delay in physical developmental milestones
• Delay in social/cognitive milestones
• Seizures
• Vision loss

Krabbe disease is caused by mutations in a gene known as GALC. GALC provides instructions for the production of an enzyme called galactosylceramidase, which is responsible for converting and recycling specific fat molecules. Genetic mutations in GALC result in a deficiency of galactosylceramidase, leading to an accumulation of fat molecules in cells that eventually causes cells to malfunction. This genetic condition is inherited in an autosomal recessive pattern, which means that affected children have one defective copy of the GALC gene from each of their parents.

There are currently no approved therapies that reverse the effects of Krabbe disease. Current approaches to Krabbe disease involve targeted management of specific symptoms and interdisciplinary collaboration.

At the Boston Children’s Lysosomal Storage Disorder (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic. We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with Krabbe disease.