Website Survey
« Back to Conditions List

Krabbe Disease

What is Krabbe Disease?

Krabbe disease, also known as globoid cell leukodystrophy, is an inherited degenerative disease of the nervous system. Leukodystrophies are a group of diseases which affect the myelin sheath, a fatty covering that insulates and protects nerve cells. People with Krabbe disease lack an enzyme called galactocerebrosidase, and the result is a build-up of toxic substances in cells that produce the myelin sheath. Without this protective covering, brain cells die and nerves in the body cannot function properly.

There are two forms of the disease: infantile and late-onset.

Infantile Form

The infantile form, which affects 85 to 90% of people with Krabbe disease, appears in the first few months of life and causes irritability, muscle weakness, unexplained fever, deafness, blindness, seizures, and slowed mental and physical development. Usually death occurs by the age of two, often due to respiratory failure.

Late-onset Form

The late onset form of Krabbe disease, which affects 10 to 15% of people with the disease, can appear at any time between the ages of six months and fifty years. These individuals slowly develop vision loss, difficulty walking, rigid muscles, and mental impairment. Symptoms among people with late onset Krabbe disease are highly variable. The disease is often fatal 2 to 7 years after symptoms begin.

How common is Krabbe Disease?

About 1 in 100,000 people in the United States and Europe have Krabbe disease, and 1 in 150 are thought to be carriers. Several Druze and Muslim communities in and around Israel have an abnormally high incidence of Krabbe disease. There, as many as 1 in 6 adults may be carriers of the disease.

How is Krabbe Disease treated?

Treatment for Krabbe disease will depend on which form of the disease a person has. Treatment options for both forms are listed below.

Infantile Form

For infants with this form of Krabbe disease who have not yet started showing symptoms, treatment with umbilical cord blood stem cells has shown promise in enabling normal or near normal lives. This procedure can take place within weeks of birth. In many cases neural deterioration is slowed following the procedure and symptoms seem less severe.

Bone marrow stem cells may be used in place of umbilical cord blood stem cells, however cord blood stem cells are less particular and do not require the donor to be a perfect match. With cord blood stem cells, there is also less risk of immune system complications.

Infants who have already started showing symptoms of the disease do not seem to benefit from this treatment. For them and others not suitable for the procedure, the only treatment is to address symptoms as they arise.

Late-onset Form

Some people with late onset Krabbe disease have benefited from treatment with umbilical cord stem cells, although this treatment has been most successful in pre-symptomatic patients with the infantile form of the disease. In cases where the treatment has been successful, neural deterioration is slowed and symptoms are less severe.

Bone marrow stem cells may be used in place of umbilical cord blood stem cells, however cord blood stem cells are less particular and do not require the donor to be a perfect match. With cord blood stem cells, there is also less risk of immune system complications.

For those not suitable for the procedure, the only treatment is to address symptoms as they arise.

What is the prognosis for a person with Krabbe Disease?

The infantile form of Krabbe disease is usually fatal before the age of two. Those infants who receive cord blood stem cells before the appearance of symptoms have longer lifespans.

Those with late-onset Krabbe disease typically live between 2 and 7 years after the onset of symptoms. The exact symptoms and rate of neurological deterioration varies greatly from person to person, even among those in the same family who have the same genetic mutations.

Resources

The Myelin Project

A group which funds research on myelin disorders such as Krabbe disease. It was founded by a family whose son has a form of leukodystrophy. Their story was told in the 1992 film "Lorenzo's Oil.".

1400 Wallace Blvd., Suite 258
Amarillo, TX 79106
Phone: (800) 869-3546

United Leukodystrophy Foundation

A non-profit which supports the families of individuals with leukodystrophies such as Krabbe disease. It also funds medical research on leukodystrophy.

2304 Highland Drive
Sycamore, IL 60178
Phone: (800) 728-5483

Other names for Krabbe Disease

  • Psychosine Lipidosis
  • Galactosylsphingosine Lipidosis
  • Galactosylceramide Lipidosis
  • Diffuse Globoid Body Sclerosis
  • Galactosylceramidase Deficiency
  • GALC Deficiency
  • Globoid Cell Leukodystrophy
  • Galactocerebrosidase Deficiency
  • Galactosylceramide Beta-Galactosidase Deficiency
  • Krabbe Disease
  • Globoid Cell Leukoencephalopathy