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Krabbe Disease

  • What is Krabbe Disease?

    Krabbe disease is an inherited disorder resulting in loss of myelin, a protective layer that forms around nerves, and neurologic degeneration. This is due to a deficiency of the enzyme galactosylceramidase. The classic form has onset in infancy. Babies with Krabbe disease appear normal at birth but become irritable and develop a stiff posture combined with developmental delay and feeding dificulties starting around 6 months. Their nervous system continues to deteriorate until they lose the ability to move, chew, swallow and breathe. They may also have seizures and lose their vision. Death usually occurs by about two years of age. Some people with Krabbe disease have a milder form with a highly variable onset between the ages of 1 and 50 years. These people may develop weakness, vision loss, and intellectual regression. Hematopoietic stem cell transplantation (HSCT) in presymptomatic infants or older individuals with milder symptoms has been able to improve or even preserve cognitive function but nervous system function may still deteriorate. Krabbe disease is caused by pathogenic variants in the GALC gene.

  • How is Krabbe Disease inherited?

    Krabbe disease is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

  • What does it mean to be a carrier?

    There are generally no signs or symptoms associated with being a carrier for Krabbe disease. However, the risk to have a child affected with Krabbe disesase is increased. Testing of reproductive partners is recommended for carriers of Krabbe disease.

  • How common is Krabbe Disease?

    Krabbe disease is not specific to a particular ethnic group. In the United States and Europe, it occurs in approximately 1 in 100,000 newborns.

  • What is analysed?

    • Full gene sequencing
    • Copy number analysis: exons 13 & 16

AFFECTED SYSTEMS
Brain
Muscle
Eye
CARRIER RATES
Ethnicity Detection Rate Carrier Frequency
General Population > 99% 1 in 150