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Condition report · Neurological

Krabbe Disease

An inherited lysosomal condition caused by changes in the GALC gene that damages the myelin of the brain and nerves. Most cases start in infancy, but later onset forms also occur.

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The condition we analyse

Krabbe disease (globoid cell leukodystrophy)

Autosomal recessive

Deficiency of the enzyme galactocerebrosidase leads to loss of myelin in the brain and peripheral nerves, with irritability, stiffness and developmental regression in the infantile form and slower progression in later onset forms.

What a diagnosis changes

Krabbe disease is included in some newborn screening programmes; stem cell transplantation can change the course when carried out before symptoms begin.

Genes analysed

Also known as

diffuse globoid body sclerosis; galactocerebrosidase deficiency; galactosylceramidase deficiency; galactosylceramide lipidosis; GALC deficiency; GALC enzyme deficiency; GLD; globoid cell leukodystrophy; globoid cell leukoencephalopathy; Krabbe leukodystrophy; Krabbe's leukodystrophy; later onset Krabbe disease

Includes 3 related subtypes ↓
  • adult Krabbe disease
  • infantile Krabbe disease
  • late-infantile/juvenile Krabbe disease
MONDO:0009499OMIM 245200Orphanet 487MedGen 44131

Limitations

  • A common GALC change is a large deletion of about 30 kb. Large deletions are detected less reliably than small variants and may need confirmation by a targeted method.

Other neurological conditions

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