KRABBE

DISEASE

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Galactosylceramidase is an enzyme

which removes galactose 1 from ceramide  

derivatives 2 (galactocerebrosides).

1 Galactose is a type of sugar.

2 Ceramides are a family of lipid molecules.

Leukodystrophy - refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath.

Myelin - which lends its colour to the white matter of the brain, is a complex substance made up of at least ten different chemicals.

The leukodystrophies are a family of disorders caused by genetic defects in how myelin produces or metabolises these chemicals.

Krabbe Disease

Also known as Globoid Cell Leukodystrophy or Galactosylceramide Lipidosis, is a rare, often fatal degenerative disease that affects the nervous system.

The disease is caused by mutations in the GALC gene, which is causes a deficiency of an enzyme called galactosylceramidase.

A build up of undigested fats affects the growth of the nerve’s protective myelin sheath (the covering that insulates many nerve axons) and causes severe degeneration of mental and motor skills.

As part of a group of disorders known as Leukodystrophies, Krabbe Disease results from the imperfect growth and development of myelin.

Infants with Krabbe Disease are normal at birth. Symptoms begin between the ages of 3 and 6 months.

Juvenile and adult onset cases of Krabbe Disease, have similar symptoms but slower progression.

The disease may be diagnosed by its characteristic grouping of certain cells, nerve demyelination and degeneration as well as the destruction of brain cells.

Although there is no cure for Krabbe Disease, bone marrow transplantation has been shown to benefit mild cases early in the course of the disease.

Generally treatment for the disease is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.

In infants the disease is generally fatal before the age of 2. Patients  with a later onset form of the disease have a milder course of the disease and live significantly longer.