More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: Globoid Cell Leukodystrophy; GALC deficiency; Galactocerebrosidase or Galactosylceramidase deficiency
Krabbe disease, also known as globoid cell leukodystrophy, is a rare genetic disorder caused by deficient activity of the enzyme galactocerebrosidase (GALC). This leads to the accumulation of toxic substances in cells, primarily affecting the nervous system’s white matter. It typically presents in infancy with rapidly progressing neurological symptoms, including muscle weakness, loss of motor skills, and vision and hearing impairments. Treatment primarily focuses on managing symptoms and providing supportive care to improve the affected individual’s quality of life.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Krabbe disease is caused by mutations of the GALC gene. This gene creates an enzyme to break down fats called galactolipids. In absence of this enzymes, these fats cannot be broken down, and they accumulate and form globoid cells (large cells which usually have more than one nucleus). This causes damage to the cells which create myelin, reducing the ability of nerves to transmit signals around the body and leading to the symptoms of Krabbe disease.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
This is a severe form of Lysosomal storage disorder that results in progressive damage to the nervous system.
The infantile form of Krabbe Disease is the most common and most severe; symptoms are irritability, feeding difficulties, stiff posture, hypotonia and episodes of fever with no sign of infection. Vision and hearing loss and seizures follow, and mental and physical development is delayed. Progressive muscle weakness makes moving, chewing, swallowing and breathing increasingly difficult. Those affected rarely live past the age of 2.
Late-onset forms can begin anytime from childhood to adulthood. Symptoms can vary but commonly begin with walking difficulties and vision loss. Other symptoms can include seizures and intellectual regression. Those with late-onset Krabbe disease can survive for many years with the condition.
Haemopoietin stem cell transplant has been shown to benefit cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. Cord blood transplants from unrelated donors have been successful in stopping the disease as long as they are given before overt symptoms appear.
Learn more about specific symptoms of this leukodystrophy in these pages.
Haemopoietic stem cell transplant has been shown to benefit cases early in the course of the disease. It has been most successful when done before symptom onset, it helps slow the progression of the disease. Cord blood transplants from unrelated donors have also been successful in stopping the disease as long as they are given before symptoms appear. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.
There is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member been diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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