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Gaucher's Disease
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Gaucher's Disease
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Wednesday, May 14, 2014
Vol XCIII, No. 311
Genetic Defects of Gaucher's Disease
Gaucher's Disease is a genetic disease in which the lipid accumulates in the cells and certain organs. This disorder can cause bruising, fatigue, anemia, low blood platelets, and the enlargement of the spleen and liver. This disease is a hereditary deficiency of the enzyme glucocerebrosidase. Glucosylceramide can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Skeletal disorders and bone lesions are another defect.
Gaucher disease has the earliest onset, within the first 3 to 6 months of life and it is fatal; causing death before 2 years of age. Due to the shortened lifespan, babies with Type 2 will not survive long enough to develop some symptoms experienced by individuals with Type 1 and Type 3.
Type 3 of Gaucher's disease also affects the brain and spinal cord. But it tends to worsen more slowly than type 2. It is called chronic neuropathic Gaucher disease.
Common Name of the Disease
Continued...
What chromosome has the defect?
This disease defects chromosome 1.
What is wrong with the chromosome?
The chromosome is lacking an important enzyme.
Cerebroside Lipidosis Syndrome
Gauchers Disease
Gaucher's disease
Gaucher splenomegaly
Gaucher syndrome
GD
Glucocerebrosidase deficiency
Glucocerebrosidosis
Glucosylceramidase deficiency
Glucosylceramide beta-glucosidase deficiency
Glucosylceramide lipidosis
Glucosyl cerebroside lipidosis
Kerasin histiocytosis
Kerasin lipoidosis
Kerasin thesaurismosis
Lipoid histiocytosis (kerasin type)
Fun Fact:
This disease was named after a French scientist by the name of Phillipe Gaucher.
Symptoms of the Disease:
People who have Gaucher's disease experience varying degrees of the following problems:
Abdominal complaints: Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
Skeletal abnormalities: Gaucher's disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
Blood disorders: A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher's disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
References
Pictures
"Common Names" http://www.medicinenet.com/gaucher_disease/page3.htm
"Gaucher's Disease" http://en.wikipedia.org/wiki/Gaucher%27s_disease
"Gaucher's Disease" http://www.chacha.com/question/what-chromosomes-does-gaucher-disease-affect
"Symptoms" http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/symptoms/CON-20031396