Krabbe

globoid cell leukodystrophy, galactosylceramide lipidosis, GALC deficiency, psychosine lipidosis

What is Krabbe disease?

Krabbe disease is a rare genetic condition that affects how the body breaks down fat in the brain.

It is inherited in an autosomal recessive pattern. This means that both parents must carry the gene mutation for their child to be affected.

What causes Krabbe disease?

Krabbe is caused when the body does not produce enough of the enzyme galactocerebrosidase (GALC). GALC breaks down fat helping to maintain myelin, the layer protecting nerve cells.

When myelin breaks down, nerves become damaged and unable to send messages around the body as they should.

What are the symptoms of Krabbe disease?

Symptoms vary depending on the age of the child when the condition is first noticed.

Babies and infants (before age 1)

  • Irritability
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Stiffness in the arms and legs
  • Developmental delays
  • Vision loss
  • Seizures

In an older child, you may notice:

  • Muscle weakness, stiffness or spasms
  • Difficulty with walking, reaching or holding objects
  • Vision problems
  • Changes in thinking and memory

In rare cases, the symptoms of Krabbe disease may not appear until teenage years or later. In such cases symptoms tend to be less severe and progress more slowly.

Managing a rare condition like Krabbe can be lonely at times, but you are not alone. There are other conditions like Krabbe that affect myelin and nerve connections. By learning about related conditions such as Canavan’s and metachromatic leukodystrophy you can connect with other families and communities to help support you on this journey.

Are you affected by Krabbe disease?

If you’re affected by Krabbe disease The Brain Charity can support you.

We are the only charity in the UK to be here for every one of more than 600 different neurological conditions in existence. Individually, many are rare, but combined they affect 1 in 6 people.

We provide practical help on all aspects of living with Krabbe disease, emotional support such as counselling, phone befriending and group therapy and social activities to people with Krabbe disease from all over the UK from our centre in Liverpool.

Looking to talk to someone?

Woman smiling, making eye contact and holding the hand of another woman to comfort her

Phone us

Contact The Brain Charity now

Our friendly Information & Advice Officers are here to help.

0151 298 2999

Looking to talk to someone?

  • Please tell us which neurological condition you are affected by and what you need support with.

Caring for someone with Krabbe disease

We support carers, friends and family too

Are you a carer or relative of someone with Krabbe disease? It’s just as important for you to look after your own physical and mental wellbeing too.

The Brain Charity provides free support for carers, friends and family of people with any form of neurological condition, including Krabbe, from anywhere in the UK.
We also run additional carers advocacy service for all carers in Liverpool, regardless of which type of condition the person they care for has.

You don’t need to be a formal or registered carer

We can help you even if you don’t view yourself as a formal carer or claim Carer’s Allowance.
Find out some of the ways we support carers below.

Other resources

Support groups

Krabbe UK Families

Krabbe UK’s Facebook support group providing advice and support to families of those living with Krabbe.

Support groups at The Brain Charity

Are you interested in starting a Krabbe support group, or do you already run one?

Email activities@thebraincharity.org.uk to let us know.

Alternatively, you can check out our list of related support groups here.

Other charities

Krabbe UK

Website: www.krabbeuk.org

Social media: Krabbe UK Facebook page

Email: Krabbe UK’s online contact form.

Metabolic support UK

Website: www.metabolicsupportuk.org

Phone: 0800 652 3181

Email: Metabolic UK’s online contact form can be found here.

Social media: Metabolic Support UK Facebook