Krabbe disease is a type of lysosomal storage disorder called a sphingolipidosis. It causes intellectual disability, paralysis, blindness, deafness, and eventually death. Krabbe disease occurs when parents pass on to their children the defective gene that causes this disease.
Krabbe disease occurs when the body lacks enzymes needed to break down fats (lipids).
Symptoms may include paralysis, intellectual disability, and blindness.
The diagnosis is based on blood tests.
This disease cannot be cured, but a bone marrow transplant may help some children.
This disease causes premature death.
There are different types of inherited disorders. In Krabbe disease, both parents of the affected child carry 1 copy of the abnormal gene. Because usually 2 copies of the abnormal (recessive) gene are necessary for the disorder to occur, usually neither parent has the disorder. (See also Overview of Hereditary Metabolic Disorders.) There are several different forms of Krabbe disease.
Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses besides Krabbe disease.
In Krabbe disease, an enzyme needed to break down lipids, called galactocerebroside beta-galactosidase, is not working correctly. These lipids build up and affect the growth of the tissues that wrap around nerves, called the myelin sheath.
This disease affects infants and causes intellectual disability, paralysis, blindness, deafness, and paralysis of certain facial muscles (called pseudobulbar palsy), progressing to death.
Krabbe disease occurs in some people in childhood or adulthood. Symptoms are similar to those in infants, but the progression is slower.
Diagnosis of Krabbe Disease
Prenatal screening tests
Newborn screening tests
Before birth, Krabbe disease can be diagnosed in the fetus by using the prenatal screening tests chorionic villus sampling or amniocentesis.
After birth, the diagnosis of Krabbe disease may be made in some states in the United States by routine newborn screening tests. Doctors also measure levels of galactocerebroside beta-galactosidase in white blood cells or skin cells, do tests to analyze DNA, or both.
Treatment of Krabbe Disease
Bone marrow or stem cell transplantation for certain forms
There is no cure for Krabbe disease. However, stem cell transplantation or bone marrow transplantation can improve the functional abilities and lengthen the life span of infants who have certain forms of Krabbe disease.
More Information
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
National Organization for Rare Disorders (NORD): This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.
Genetic and Rare Diseases Information Center (GARD): This resource provides and easy to understand information about rare or genetic diseases.
