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# Krabbe disease (globoid cell leukodystrophy)

In Krabbe disease the myelin of the brain and nerves is destroyed quickly; in babies it causes irritability, stiffness and loss of skills.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [White matter](https://durgical.com/en/anatomy/white-matter-of-telencephalon/)
- [Corpus callosum](https://durgical.com/en/anatomy/corpus-callosum/)
- [Optic nerve](https://durgical.com/en/anatomy/optic-nerve/)
- [Cerebellum](https://durgical.com/en/anatomy/anterior-quadrangular-lobule/)
- [Sciatic nerve](https://durgical.com/en/anatomy/sciatic-nerve/)

## In biochemistry

- [Sphingolipids and sphingolipidoses](https://durgical.com/en/biochemistry/topics/sphingolipids-and-sphingolipidoses/)
- [Lysosomal storage diseases](https://durgical.com/en/biochemistry/topics/lysosomal-storage-diseases/)
- [Ceramide](https://durgical.com/en/biochemistry/molecules/ceramide/)
- [Galactosylceramide (galactocerebroside)](https://durgical.com/en/biochemistry/molecules/galactosylceramide/)
- [Arylsulfatase A (ARSA)](https://durgical.com/en/biochemistry/enzymes/arylsulfatase-a/)
- [Galactocerebrosidase (GALC)](https://durgical.com/en/biochemistry/enzymes/galactocerebrosidase/)

## What it is

An autosomal recessive lysosomal leukodystrophy caused by galactocerebrosidase deficiency (GALC gene), with buildup of psychosine, which is toxic to myelin-forming cells.

## Who gets it

In the United States it affects about 1 in 100,000 people; some isolated communities in Israel have a much higher frequency. The early infantile form is the most common.

## Causes

- Biallelic variants of the GALC gene (autosomal recessive)
- Rarely, saposin A deficiency

## Risk factors

- Carrier parents or an affected sibling

## Pathophysiology

Galactocerebrosidase breaks down myelin galactosylceramide and psychosine (galactosylsphingosine). Without it, psychosine builds up and kills oligodendrocytes and Schwann cells: myelin is lost in the central [nervous system](https://durgical.com/en/anatomy/system/nervous-system/) and in peripheral nerves. Macrophages loaded with galactosylceramide fuse into the multinucleated globoid cells typical of the white matter.

## Classification

- Early infantile: onset before 6 months, the most common and severe
- Late infantile and juvenile: onset between 6 months and adolescence
- Adult: slowly progressive weakness, spasticity and visual loss

## Symptoms and signs

- Irritability and inconsolable crying
- Muscle stiffness and extensor posturing
- Fevers without infection
- Feeding difficulty and vomiting
- Loss of motor skills
- Loss of vision and hearing

## Red flags

- An irritable infant losing milestones with increasing stiffness
- Seizures
- Swallowing difficulty with aspiration

## Diagnosis

**Clinical**
An infant with extreme irritability, stiffness, regression and peripheral neuropathy; in later forms, spastic paraparesis and visual loss.

**Tests**
Low galactocerebrosidase activity in leukocytes or dried blood spots; high psychosine in dried blood spots; GALC gene testing; high cerebrospinal fluid protein; slowed nerve conduction.

**Imaging**
Brain MRI with symmetric demyelination of periventricular [white matter](https://durgical.com/en/anatomy/white-matter-of-telencephalon/) and corticospinal tracts; CT may show hyperdense thalami; thickened optic nerves in some cases.

## Treatment

**Procedure**
Haematopoietic stem cell transplant in presymptomatic infants (for example, found by newborn screening or through an affected sibling); once symptoms are established the benefit is small.

**Medical**
Control of seizures, spasticity, reflux and irritability. Gene therapy is under investigation.

**Rehabilitation**
Physiotherapy and nutritional support, sometimes with a gastrostomy.

**Conservative**
Palliative care, family support and genetic counselling.

## Complications

- Aspiration pneumonia
- Blindness and deafness
- Contractures
- Respiratory failure

## Prognosis

The early infantile form usually causes death before age 2. Later forms progress more slowly.

## Prevention

- Genetic counselling and prenatal diagnosis in families with an affected child
- Newborn screening, available in some countries, to identify presymptomatic babies

## Test yourself

Think of the answer, then tap the question to see it.

## Which enzyme is missing in Krabbe disease?

Galactocerebrosidase (GALC gene).

## Which toxic molecule destroys oligodendrocytes in Krabbe disease?

Psychosine (galactosylsphingosine), which is not broken down without GALC.

## Which cells give globoid cell leukodystrophy its name?

Multinucleated macrophages loaded with galactosylceramide in the white matter.

## When is stem cell transplant useful in Krabbe disease?

Before symptoms appear; once they are established the benefit is small.

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## Related conditions

- [Metachromatic leukodystrophy](https://durgical.com/en/conditions/metachromatic-leukodystrophy/)
- [Epilepsy and seizures](https://durgical.com/en/conditions/epilepsy-and-seizures/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Krabbe disease: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/krabbe-disease/) (MedlinePlus, US National Library of Medicine, 2026); [GALC gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/galc/) (MedlinePlus, US National Library of Medicine, 2026); Textbook of Biochemistry for Medical Students, 6th ed. (Jaypee Brothers Medical Publishers (Vasudevan DM, Sreekumari S, Vaidyanathan K), 2011).

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Source: https://durgical.com/en/conditions/krabbe-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/krabbe-disease/