Transcript Krabbe disease - shsbiogeneticdisorders

DAVID MIROTZNIK
Biology 5th hr.
January 25, 2011
ABOUT THE DISEASE
• Krabbe disease is a degenerative disorder that affects
the nervous system.
• The disease causes a deficiency of an enzyme.
• Without this enzyme, myelin does not properly cover
the nerves causing physical, mental, and emotional
problems.
• Krabbe disease is also know as
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Globoid cell leukodystrophy.
Diffuse globoid body schlerosis
GALC deficiency
GCL
Who is most likely to get
Krabbe Disease?
• Krabbe disease usually
develops in infants.
• Late onset Krabbe disease is
less common but may occur
in childhood or adolescence.
• Krabbe disease occurs more
often in people from Israel
and from Sweden than in the
population at large.
SYMPTOMS
• Symptoms start before the age of 1
• Some signs of symptoms include:
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irritability,
muscle weakness,
feeding difficulties,
stiff posture,
slow mental/physical development.
Inheritance Pattern
• Inheritance Pattern
– Krabbe disease is an
autosomal recessive
disorder, which
means you have to
inherit the abnormal
gene from both
parents in order to
get it.
What Chromosome is Involved?
• Krabbe disease is
caused by mutations
in gene GALC, which
is located on
chromosome 14
How Common is Krabbe Disease?
• In the United States, 1 out of 100,000 people
have Krabbe disease.
• About 1 out of 150 people carry the gene for
Krabbe Disease.
Is Krabbe Disease Deadly?
• Is it fatal?
– Yes, it is typically fatal when it occurs in
children who are 2 years or younger
• Does it shorten the lifespan?
– Yes, when it develops in children and
adolescents they usually only live for a few
years
Is there a test for
Krabbe Disease?
• Several tests can be used to detect Krabbe
Disease:
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Image scans of the brain and head
Nerve conduction studies
Eye examinations
Genetic testing
• When can you get tested?
– A blood test can be done to see if you carry the gene
for Krabbe Disease
– Prenatal tests are possible to determine if Krabbe
Disease is present before birth
– Infants may also be tested
Is there a treatment for
Krabbe Disease?
• There is no cure for Krabbe
Disease.
• Some treatments used to try to
reduce the severity of the
disorder include:
– Bone marrow transplants
– Cord blood transfusions
Are there any support groups for
Krabbe Disease?
• There are several support
groups for Krabbe Disease:
– The United Leukodystrophy
Foundation
– Family Village
– Hunter’s Hope
– National Organization for Rare
Disorders
Did you know…
• Krabbe disease was discovered in
the early 1900’s by a doctor in
Denmark named Knud Haraldson
Krabbe.
• Ironically, Dr. Krabbe died in 1966
from Parkinsons Disease, a
neurological disorder that develops
later in life.
Works Cited
• www.ghr.nlm.nih.gov/condition/Krabbedisease
• www.mayoclinic.com
• www.ehow.com/about_5569537_krabbedisease-named.html
• www.krabbes.com/haleys_hope/general_i
nformation.htm