What is Krabbe Disease?

Krabbe disease ("crab-A"), also known as globoid cell leukodystrophy, is a rare and severe condition caused by a broken gene. It usually shows up during the first six months of life.

People with Krabbe disease can't make an enzyme called galactosylceramidase. This leads to a loss of myelin, the protective coating on the body's nerves.

Loss of myelin can lead to nerve damage. This nerve damage keeps the brain from sending signals to the body, leading to Krabbe disease symptoms.

How Common Is Krabbe Disease?

Krabbe is a rare disease.

While older children may get it, doctors diagnose Krabbe mostly in 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 disease, which can happen at any other time.

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

Causes of Krabbe Disease

Krabbe disease is an inherited condition. It passes from parent to child through a broken GALC gene. Most parents don't have any symptoms of the condition.

Each parent must carry a copy of the faulty gene and pass it on. This means that couples may have more than one child with Krabbe disease.

The body can't make the enzyme when you have a broken GALC gene. Normally this gene provides the body with instructions to make the enzyme galactosylceramidase.

Not having enough galactosylceramidase leads to Krabbe disease.

Krabbe Disease Symptoms

The symptoms of infantile Krabbe disease often start around six months old.

Some of the first symptoms include:

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

As the disease gets worse, 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.
• A decline in mental ability.

Diagnosing Krabbe Disease

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

To get a diagnosis for an older baby, you'll visit the doctor, who will examine your child.

If they suspect Krabbe, your baby will need:

• A blood test to learn the amount of galactosylceramidase enzyme in the blood.
• An MRI scan to look for changes in the nerves and brain.

Late-onset Krabbe disease is rare and can be harder to diagnose. It forms more slowly, causing progressive damage over the years.

Doctors test the blood to measure galactosylceramidase and perform imaging to look for brain and nerve differences.

For treatment, doctors must diagnose the disease as soon as possible.

Krabbe Disease Treatment

Right now, there's no cure for Krabbe disease.

Supportive therapy aims to help kids with Krabbe disease manage their symptoms and improve their quality of life.

It includes:

• Medicine to help with muscle spasms and seizures.
• Physical therapy to help with movement.
• Occupational therapy to help with daily living activities.
• Palliative care (comfort care).

An umbilical cord blood transplant has extended many children's lives. It can stop the progression of the disease, but it can't bring back lost function.

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

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 child for Krabbe disease care, contact us by:

• Phone: 412-692-7273.
• Email: rarecare@chp.edu.

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

Your first visit can take four hours to several days.

Your child will receive a complete assessment from our team. We will make or confirm a precise diagnosis and find out how much your child's Krabbe disease has progressed.

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

These may include experts in:

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

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

After your first visit, a member of your child's Krabbe disease care team will talk with you about:

• Likely next steps for your child.
• Options for treating Krabbe disease.
• Ways to improve your child's quality of life at home.

We'll discuss the details if a transplant might be a good option. We'll let you know how you and your child can prepare.

At the end of your visit, you will:

• Have a care plan tailored to your child's needs.
• Schedule a follow-up visit in three months.
• Meet our nurse practitioner, who you can contact with any concerns you have before your next appointment.

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

When should I expect the results if my child had tests at the Center for Rare Disease Therapy?

You can expect to meet with our team to review the testing results and explain the next steps during your visit.

You can also find your child's test results on MyCHP — Children's patient portal. MyCHP portal lets you manage your child's health online.

It's free to families of kids getting care at UPMC Children's Hospital of Pittsburgh.

Partners in Your Child's Krabbe Disease Care

A child with a rare disease like Krabbe affects the whole family. We see each family member as our partner at the Center for Rare Disease Therapy.

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

Call or email to make an appointment or learn more about your child's Krabbe disease:

• Phone: 412-692-7273.
• Email: rarecare@chp.edu.

*Original research initiated by investigators at UPMC Children’s Hospital of Pittsburgh.