Globoid Cell Leukodystrophy
Globoid Cell Leukodystrophy, also known as Krabbe's Disease, is a genetically inherited condition belonging to a category known as "storage diseases." A storage disease occurs when a particular enzyme, which is necessary for a normal process within the body, is deficient, and as a result, the compound which the enzyme normally acts upon builds up. This build-up leads to the expression of the disease and its symptoms, typically not at birth, but generally at a consistent age for each specific storage disease.
In the case of Globoid Cell Leukodystrophy, the deficient enzyme is galactocerebroside beta-galactosidase. This enzyme normally is involved in the breakdown of fats in the brain and spinal cord. When it is deficient, the compound galactocerebroside begins to build up. Galactocerebroside is a component of myelin, which is the fatty substance that surrounds and insulates nerve cells, keeping the electrical impulses properly isolated within the cells. When Galactocerebroside builds up, the production of myelin is affected, and as a result, there is a progressive loss of the myelin sheath on nerve cells in the brain and spinal cord.Age of Onset
Puppies affected with Globoid Cell Leukodystrophy are normal at birth, but they may begin showing symptoms as early as four weeks or as late as six months. Basset Hounds are the exception, since they may not show symptoms for several years.Symptoms of Globoid Cell Leukodystrophy
Symptoms are typically progressive (gradually worsening) and include stiffness when walking, weakness, lack of balance and coordination, tremors, loss of control (especially of hindquarters), and typically will eventually progress to paralysis and possible blindness. As would be expected, there are also generally behavioral changes that occur in conjunction with the physiological symptoms.
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