Krabbe disease

[Merna]

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 the defective gene that causes this disease on to their children.

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. 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.)
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:

Fabry disease
Gaucher disease (most common)
Metachromatic leukodystrophy
Niemann-Pick disease (types A and
Sandhoff disease
Tay-Sachs 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, 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.