DAVID MIROTZNIK Biology 5th hr. January 25, 2011 KRABBE DISEASE 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 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: 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: 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/Krabbe-disease www.mayoclinic.com www.ehow.com/about_5569537_krabbe-disease-named.html www.krabbes.com/haleys_hope/general_information.htm