What is Krabbe Disease?

Globoid Cell Leukodystrophy

Krabbe disease ("crab-A") is also known globoid cell leukodystrophy.

Krabbe disease is an inherited disorder, which means parents pass the gene for the disease to a child. Because it's an inherited condition, couples may have more than one child with this disease.

This is a rare condition. While older children may get this disease, it usually affects babies under six months old.

Krabbe disease types

There are two types of Krabbe disease:

  • Infantile occurs in babies less than six months of age.
  • Late-onset can happen at any other time.

The effects of this disease can be severe, leading to death.

In Krabbe, the body can't make an enzyme called galactosylceramidase. This leads to a loss of myelin, which protects the body's nerves, and causes nerve damage.

This nerve damage keeps the brain from sending signals to the body, which leads to the symptoms of Krabbe disease.

Krabbe Disease Symptoms

The symptoms of infantile Krabbe disease normally occur by the time a baby is six months old.

Some of the first symptoms of this disease include:

  • Unusual fussiness or irritability
  • Poor feeding
  • Muscle weakness or stiffness
  • Unexplained fevers

As the disease progresses, other symptoms may include:

  • Seizures
  • Hearing loss
  • Vision loss
  • Nerve pain in the hands and feet
  • Inability to move and swallow

In late-onset Krabbe Disease, symptoms may include:

  • Muscle weakness or stiffness
  • Trouble walking
  • Hearing or vision loss
  • Seizures
  • Decline in mental ability

Diagnosing Krabbe Disease

In some states, but not all, doctors routinely test newborns for Krabbe disease.

At your child's appointment, the doctor will examine your child. If he or she suspects Krabbe, your baby will need to have a blood test and an MRI..

It's vital for treatment that doctors diagnose the disease as soon as possible.

Krabbe Disease Treatment

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. Transplant isn't right for all kids, but your child's doctor may discuss this option with you.

Learn more about transplant at the Division of Blood and Marrow Transplantation (BMT) and Cellular Therapies.


Maria Escolar, MD
Director, Program for the Study of Neurodevelopment in Rare Disorders

An NIH-funded researcher, Dr. Escolar is internationally known for her work in mucopolysaccharidosis, leukodystrophies, and other white matter brain diseases. Her program designed the first neuroimaging tool that predicts the progression of leukodystrophies.


Your Child's Krabbe Disease Consult and Care: What to Expect

If a doctor diagnosed your child with Krabbe disease, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.

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

Here’s what you can expect when you come to us for your child's first consult.

What should I expect at my child's first visit for Krabbe disease?

You can expect your first visit to take from 4 hours to several days.

Your child will receive a complete assessment from Maria Escolar, MD, director, Program for the Study of Neurodevelopment in Rare Disorders.

Dr. Escolar will make or confirm a precise diagnosis and find out how much the disease has progressed.

Because we work as a team here at the center, other doctors and staff might see your child during your visit.

These may include specialists in:

  • Genetic diseases
  • Brain diseases
  • Child development
  • Hearing
  • Physical therapy

What are the next steps after my child's visit?

Members of your child's Krabbe disease care team will talk with you about:

  • Likely next steps for your child in the near future.
  • Options for treating Krabbe disease.
  • Ways to care for your child at home to help improve his or her quality of life.

If surgery might be a good option, we'll discuss the details. We'll let you know how you and your child can prepare for surgery.

By the end of your visit, you will have a care plan tailored to your child’s needs. We'll also schedule a follow-up visit in 3 months.

You'll meet our nurse practitioner (NP). You can contact our NP by phone or video conference with any concerns you have between now and your next appointment.

Before you leave, please feel free to ask us about your child's Krabbe disease diagnosis, treatment, or anything else on your mind.

If my child had tests at the Center for Rare Disease Therapy, when should I expect the results?

You can expect to meet with Dr. Escolar to review results and explain next steps during your visit.

You can also find your child's test results if you signed up for myCHP — Children's patient portal.

myCHP lets you manage your child's health online. It's free to patients, parents, and guardians of Children's Hospital of Pittsburgh of UPMC.

Partners in Your Child's Krabbe Disease Care

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

At the Center for Rare Disease Therapy, we see each family member as our partners.

The best care approach happens when we merge our Krabbe disease expertise with your knowledge of what’s best for your child.

Contact us to make an appointment or learn more about your child's Krabbe disease:


Learn more about Lily's experience with Krabbe Disease at Children's Hospital.Lily's Story

At age 4½ months, Lily was diagnosed with Krabbe disease. A transplant of umbilical cord blood at Children’s Hospital halted the progression of this devastating disease.

Learn More »


Clinical Studies

Krabbe Disease and Motor Impairment Identification Using MRI

DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

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Krabbe Disease Progression Study

The Natural History of Infantile Globoid Cell Leukodystrophy

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Neurodegenerative Disorders Study

Longitudinal Investigation of Neurodegenerative Disorders in Children

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Non-Malignant Marrow Disorder Treatment using Reduced Intensity Conditioning – Phase II

Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation

Read more