What is Krabbe Disease?

Krabbe disease is a severe neurological condition that impacts the nervous system. It is very rare, affecting fewer than 5,000 people in the U.S.

Krabbe disease is a genetic disorder where the body doesn’t make enough of an enzyme required to make and repair myelin. Myelin is an insulating layer that forms around nerves and allows electrical impulses to transmit along the nerve cells. Insufficient myelin impairs nerve function, causing neurological problems.

Symptoms of Krabbe Disease

Krabbe disease comprises a spectrum of disease ranging from infantile onset disease to later onset disease.

Early-onset Krabbe disease

Doctors typically see Krabbe disease in infants, beginning before a baby turns 1.

“Children with early-onset Krabbe usually make very low to no enzyme and manifest with the most severe form of the disease,” says Deepa Rajan, MD, interim director of the Program for the Study of Neurodevelopment in Rare Disorders (NDRD) at UPMC Children’s Hospital of Pittsburgh.

Some of the early symptoms of Krabbe disease in infants include:

  • Irritability or fussiness.
  • Feeding difficulties.
  • Muscle weakness.
  • Stiff posture.
  • Developmental delays.
  • Staring episodes.

As the disease progresses, new symptoms also may appear in infants. They include:

  • Further muscle weakness, affecting the ability to move, chew, and swallow.
  • Nerve pain in hands and feet.
  • Seizures.
  • Vision and hearing loss.

There’s currently no cure for Krabbe disease, though some children might benefit from hematopoietic stem cell transplantation (HSCT). Early diagnosis and supportive therapy can give children with this disease the best possible quality of life.

Late-onset Krabbe Disease

Although everyone with Krabbe disease has the disorder from birth, some don’t show symptoms until after infancy.

According to Dr. Rajan, cases of Krabbe diagnosed in later childhood and adulthood have become more common.

“Krabbe in infants is the classical form that we think of, but now as more people have access to genetic testing, we’ve seen an increase in diagnosis in older children as well as adults,” he says.

Late-onset Krabbe disease symptoms include:

  • Vision problems and hearing loss.
  • Trouble walking.
  • Muscle weakness or stiffness.
  • Decline in mental ability.
  • Seizures.

Symptoms vary considerably, and those with late-onset Krabbe disease can survive for years after the condition begins.

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Krabbe Disease Causes

Krabbe disease is a genetic (inherited) recessive disorder. This means a child needs to inherit a gene for the disease from each parent in order to develop it. If both parents are carriers of the disease, their children have a one-in-four chance of developing the disease.

Doctors may use prenatal testing to assess the risk of an infant being born with Krabbe disease. This test is not done routinely but can be especially useful if there’s a family history of Krabbe disease — or if the parents already have a child with the disorder.

Diagnosing Krabbe Disease

Depending on the state’s rules, some doctors will test newborns for Krabbe disease during their newborn screening.

If the newborn screening result requires a follow-up for Krabbe disease, your doctor will run additional testing. Just because a screening result is out of range does not mean your child has the condition. Other factors could give this result, such as a blood sample that’s too small.

It is important to follow up as soon as possible to confirm test results.

Follow-up testing can include:

  • Further blood testing.
  • An MRI.
  • Genetic testing.
  • Nerve conduction studies.
  • Audiology exams.
  • Ophthalmology exams.

Krabbe Disease Treatment

While there is currently no cure for Krabbe disease, there are treatments that can help maximize quality of life.

“In any neurodegenerative disorder, early screening opens the window of opportunity for any treatment trials to prevent the progression of the disease,” says Dr. Rajan. Catching Krabbe disease as early as possible can especially help those few patients who might benefit from therapies like transplantation.

Umbilical cord blood or bone marrow transplants have extended the lives of some children whose disease was detected early in its course. These procedures use stem cells from umbilical cord blood or bone marrow to help stop the progression of the disease.

But this treatment can’t repair myelin that has already sustained damage.

There are clinical trials around the country designed to learn more about Krabbe disease and develop better diagnosis and treatment methods.

Your Child’s First Visit for Krabbe Disease

The duration of your child’s first visit can vary. It may make take four hours — or your child may have appointments spread out over several days.

Your child will receive a complete assessment. This allows our team to make or confirm a precise diagnosis — and find out how much the disease has progressed.

Your child’s care team may include specialists in:

  • Genetic diseases.
  • Brain diseases.
  • Child development.
  • Hearing and vision.
  • Physical and speech therapy.

Partners in Your Krabbe Disease Care

When a child has a rare disease like Krabbe, it affects the whole family.

At the Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh, we see each family member as our partner. Our Krabbe disease experts work closely with families, who have a deep knowledge of what’s best for their child. This ensures the best care possible.

To make an appointment for your child or refer a patient for Krabbe disease care, contact us by:

The NDRD also has resources for families dealing with Krabbe and other rare diseases.

Editor's Note: This article was originally published on , and was last reviewed on .










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