Tay Sach’s Disease

Gaucher’s Disease
Krabb’s Disease

By-Monu Dalal
Tay Sach’s Disease
Gaucher’s
Disease
What is Krabbe Disease??
Krabbe disease is a rare and usually deadly disorder of the nervous system.

It is an inherited genetic disease, which means that it is passed down in families.

People with Krabbe disease are not able to create enough of a substance called galactosylceramidase (GALC), which is needed
to make myelin.

Myelin is a material your body uses to surround and protect nerve fibers.

Without this protection, cells in the brain will die, and the nerves in the brain and other parts of the body will not work
properly.

Krabbe disease is seen mostly in infants (onset by age 6 months), but it can also develop later in life.
What Causes Krabbe Disease?
• It is caused by a genetic mutation — a permanent change in the DNA sequence that
makes up a certain gene. The mutation affects the message that the gene sends to
the cells in your body.

• The gene for Krabbe disease can be found on chromosome 14.

The abnormal gene results in a shortage of an important enzyme that your body
needs called galactosylceramidase (GALC).

• Your body needs GALC to make and maintain myelin, a substance that surrounds and
helps protect your nerves.
In people with Krabbe disease, who do not have GALC, a substance called
galactolipids will build up in the brain.
Galactolipids are stored by cells called globoid cells. For this reason, Krabbe disease is
sometimes also called globoid cell leukodystrophy.
What Are the Symptoms
of Krabbe Disease?
In general, the younger the age of onset of Krabbe disease, the faster the
disease will progress. People who develop Krabbe disease later in life may
have less severe symptoms than infants who get the disease.

• Early-Onset Krabbe • Late-Onset Krabbe Disease

Disease Symptoms of Symptoms of late-onset
early-onset Krabbe Krabbe disease in older
disease include: children and adolescents
•
•
feeding problems
fevers
include:
• irritability and excessive crying
• progressive loss of vision leading to blindness
• poor coordination of movement
. • difficulty walking (ataxia)
deterioration of mental and motor function • poor hand coordination skills
• deafness and blindness • muscle weakness or rigid muscles
How Is Krabbe
Disease Treated ?
 There is no cure for Krabbe disease. However, the
following treatments may be given to patients to help
alleviate their symptoms:

• anticonvulsant medication to stop seizures

• muscle relaxer drugs (to help ease muscle
spasms)
• physical therapy to help slow deterioration of
muscles
• Studies suggests hematopoietic stem cell transplantation