What is Krabbe disease?
How common is Krabbe disease?
Krabbe disease is rare. In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2. When it develops in older children and adults, the course of the disease can vary greatly. Please discuss with your doctor for further information.
What are the symptoms of Krabbe disease?
In most cases, the signs and symptoms of Krabbe disease appear during the first few months of life. They begin gradually and progressively worsen.
Common signs and symptoms early in the course of the disease include the following:
- Feeding difficulties
- Unexplained crying
- Extreme irritability
- Fever with no sign of infection
- Declines in alertness
- Delays in typical developmental milestones
- Muscle spasms
- Loss of head control
- Frequent vomiting
As the disease progresses, signs and symptoms become more severe. They may include:
- Loss of developmental abilities
- Progressive loss of hearing and sight
- Rigid, constricted muscles
- Stiff, fixed posture
- Progressive loss of ability to swallow and breathe
Older children and adults
When Krabbe disease develops later in childhood or during adulthood, signs and symptoms can vary widely. They may include:
- Progressive loss of vision
- Difficulty walking (ataxia)
- Decline in thinking skills
- Loss of manual dexterity
- Muscles weakness
As a general rule, the younger the age that Krabbe disease occurs, the faster the disease progresses and the more likely it is to result in death.
Some people diagnosed during adolescence or adulthood may have less severe symptoms, with muscle weakness as a primary condition. They may have no impairment of their thinking skills.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Krabbe disease?
Krabbe disease is a genetic disorder, which means that a person inherits the disease from their parents. It is caused by a genetic mutation — a permanent change in the DNA sequence that makes up a certain gene. The mutation affects the message that the gene sends to the cells in your body.
The gene for Krabbe disease can be found on chromosome 14. A child needs to get an abnormal gene from both parents to inherit the disease. The abnormal gene results in a shortage of an important enzyme that your body needs called galactosylceramidase (GALC).
Your body needs GALC to make and maintain myelin, a substance that surrounds and helps protect your nerves. In people with Krabbe disease, who do not have GALC, a substance called galactolipids will build up in the brain. Galactolipids are stored by cells called globoid cells. For this reason, Krabbe disease is sometimes also called globoid cell leukodystrophy. There are two types of Krabbe disease:
- Early-onset Krabbe disease occurs in the first months after birth, typically before an infant reaches 6 months of age.
- Late-onset Krabbe disease occurs later in childhood or in early adolescence.
What increases my risk for Krabbe disease?
The gene mutation associated with Krabbe disease only causes the disease if two mutated copies of the gene are inherited. A disease resulting from two mutated copies is called an autosomal recessive disorder.
If each parent has one mutated copy of the gene, the risk for a child would be as follows:
- A 25 percent chance of inheriting two mutated copies, which would result in the disease
- A 50 percent chance of inheriting only one mutated copy, which would result in the child being a carrier of the mutation but would not result in the disease itself
- A 25 percent chance of inheriting two normal copies of the gene
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Krabbe disease diagnosed?
Your doctor will conduct a physical exam to look for symptoms. The doctor will take a sample of blood or skin tissue biopsy, and send it to a laboratory for analysis. The laboratory can test for GALC enzyme activity in the sample. If GALC activity levels are very low, the child may have Krabbe disease. The following tests may also be performed to confirm a diagnosis:
- Imaging scans (mri) of the brain to look for abnormalities
- Nerve conduction studies to measure the speed at which electrical impulses are sent through the nervous system
- Eye examination to look for signs of damage to the optic nerve
- Genetic testing to detect the genetic defect that causes Krabbe disease.
How is Krabbe disease treated?
For infants who have already developed symptoms of Krabbe disease, there is currently no treatment that can change the course of the disease. Treatment, therefore, focuses on managing symptoms and providing supportive care. Interventions may include the following:
- Anticonvulsant medications to manage seizures
- Drugs to ease muscle spasticity and irritability
- Physical therapy to minimize deterioration of muscle tone
- Nutritional support, such as the use of a tube to deliver fluids and nutrients directly into the stomach (gastric tube)
Interventions for older children or adults with less severe forms of the disease may include:
- Physical therapy to minimize deterioration of muscle tone
- Occupational therapy to achieve as much independence as possible with daily activities
- Stem cell transplantation
Hematopoietic stem cells are specialized cells that can develop into all of the different types of blood cells in the body. These stem cells are also the source of microglia, specialized debris-eating cells that take up residence in the nervous system. In Krabbe disease, microglia are transformed into toxic globoid cells.
In stem cell transplantation, donor stem cells are delivered into the recipient’s bloodstream through a tube called a central venous catheter. The donor stem cells help the body produce healthy microglia that can populate the nervous system and deliver functioning GALC enzymes. This treatment may help restore some degree of normal myelin production and maintenance.
This therapy may improve outcomes in infants if treatment begins before the onset of symptoms — that is, when a diagnosis results from a newborn screening test.
Presymptomatic infants receiving a stem cell transplant have had slower disease progression, but these children still experience significant difficulties with speech, walking and other motor skills.
Older children and adults with mild symptoms also may benefit from this treatment.
Sources for hematopoietic stem cells include:
- Umbilical cord blood
- Donor bone marrow
- Donor circulating (peripheral) blood stem cells
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Krabbe disease?
Please discuss with your doctor for further information.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: November 13, 2017 | Last Modified: November 13, 2017
Krabbe Disease. https://www.healthline.com/health/krabbe-disease#overview1. Accessed November 13, 2017.
Krabbe disease. https://www.mayoclinic.org/diseases-conditions/krabbe-disease/basics/coping-support/con-20029450. Accessed November 13, 2017.