Krabbe Disease | Symptoms & Causes
What are the symptoms of Krabbe 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
What causes Krabbe disease in children?
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.
Krabbe Disease | Diagnosis & Treatments
How do we treat Krabbe disease?
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.
How we care for Krabbe disease
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.
