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 the results of prenatal screening tests and newborn screening tests.
This disease causes premature death.
This disease cannot be cured, but a bone marrow transplant may help some children.
There are different types of inherited disorders Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more . In Krabbe disease, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (See also Overview of Hereditary Metabolic Disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. Heredity is the passing of genes from one generation to the next. Children inherit their parents'... read more .) 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 cerebroside 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 Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more , 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 Chorionic Villus Sampling Prenatal testing for genetic disorders and birth defects involves testing a pregnant woman or fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including... read more or amniocentesis Amniocentesis Prenatal testing for genetic disorders and birth defects involves testing a pregnant woman or fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including... read more .
After birth, the diagnosis of Krabbe disease may be made in some states by routine newborn screening tests Newborn Screening Tests Screening tests are done to detect health conditions that are not yet causing symptoms. Many serious disorders that are not apparent at birth can be detected by various screening tests. Early... read more . Doctors also measure levels of cerebroside beta-galactosidase in white blood cells or skin cells.
Treatment of Krabbe Disease
Bone marrow or stem cell transplantation for certain forms
There is no cure for Krabbe disease. However, a stem cell transplantation or a bone marrow transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more can improve the functional abilities and lengthen the life span of infants who have certain forms of Krabbe disease.
The following are some English-language resources that 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.