I had not heard of Krabbe disease until 2011, when a relative was diagnosed with it. Krabbe is also called Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency. It is a rare genetic disorder of the nervous system and is a type of leukodystrophy. It is named after the Danish neurologist Knud Haraldsen Krabbe who discovered it.
Krabbe disease is caused by a defect in the GALC gene. People with this gene defect don’t make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase).
This is needed by the body to make myelin, the material that surrounds and protects nerve fibers. Myelin breaks down without it, brain cells die, and nerves in the brain and other body areas do not work properly.
There are two forms of Krabbe disease.
- Early-onset Krabbe disease appears in the first months of life.
- Late-onset Krabbe disease begins in late childhood or early adolescence.
Krabbe disease is inherited, which means that it runs in families. To get this disease, each of your parents must pass you a copy of the faulty GALC gene.
This condition is very rare, Affecting 1 in 100,000 births.
Symptoms
- Changing muscle tone from floppy to rigid.
- Hearing loss that leads to deafness
- Feeding difficulties
- Irritability and sensitivity to loud sounds
- Severe seizures
- Unexplained fevers
- Vision loss that leads to blindness
- Vomiting
There is no specific treatment for Krabbe disease.It is possible to have a bone marrow transplant in the early stages of the disease, but this treatment has risks.The outcome of Krabbe is usually not good. On average, infants with Krabbe die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease.
United Leukodystrophy Foundation — www.ulf.org
http://www.krabbes.com/