What is Gaucher's disease?

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Mridula jayaraman's picture

Gauchers Disease* This disease was first described in the year 1882 by a French physician, Dr. Philippe C.E. Gaucher. As per him this disease or disorder takes place due to Accumulation of a particular lipid. Gaucher disease is basically defined as an inherited metabolic disorder (caused due to defective gene for the enzyme glucocerebrosidase from both parents) that leads to the accumulation of a particular fatty substance through out the body. Due to the accumulation of lipids in the body, it results in to deficiency of a particular enzyme acid beta-glucocerebrosidase which is necessary for the breakdown of a particular lipid- glucosyl ceramide. As the lipid accumulates, the glucosyl ceramide gets stored in macrophages (the scavenges cells of the body), which takes up characteristic appearance unique to those affected with this disorder ('Gaucher Cells' - basically termed as). These lipids get accumulated in the spleen, liver, bone marrow, brain and the lungs. Basically there are three types of Gaucher Disease- Type 1- Which mainly occurs in 99% of population in which accumulation doesn't take place in brain. It mainly leads to erosion bone tissues in people. Type 2- Here mainly the brain is involved where, people often die due to this. Type 3- bit higher stage of type 2 where, the disease progression is slower and neurological symptoms are found in the young stage. Symptoms- Bone fracture, Spleen enlargement, Thrombocytopenia, Anemia. Diagnosis Bone marrow biopsy- Sampling of Solid Bone Specific blood tests are done to see the deficient beta- glucocerebrosidase in WBC cells. Treatment- IV administration in regular basis for purification of adequate quantities of alglucerase (glucocerebrosidase-beta-glucosidase), quite an expensive drug. References *http://www.healthscout.com/ency/68/270/main.html#cont

mridula jayaraman

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Francine's picture

Gaucher Disease is a genetic, an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD) in which lipid accumulates in cell and certain organs. It has several forms of this condition. Type 1(non-neuronopathic) Gaucher disease is the most common form of this condition. In this type, the brain and spinal cord Type 2 and 3 (neuronopathic forms) Gaucher disease In these types, the central nervous system is affected. Abnormal eye movements, seizures, and brain damage can be the results of these conditions. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2 are usually not affected The most severe type of Gaucher disease is called the perinatal lethal form. Another form of Gaucher disease is known as the cardiovascular type as it primarily affects the heart, causing the heart valves to harden (calcify). Signs and Symptoms Painless hepatomegaly and splenomegaly; Hypersplenism; Cirrhosis of the liver is rare Neurological symptoms Type II: serious convulsions, hypertonia, mental retardation, apnea. Type III: muscle twitches known as myoclonus, convulsions, dementia, ocular muscle apraxia. Osteoporosis: Yellowish-brown skin pigmentation Treatment Imiglucerase - injection, Cerezyme Ref: http://www.medicinenet.com/gaucher_disease/article.htm http://en.wikipedia.org/wiki/Gaucher's_disease

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