Gaucher Disease: Description, Causes and Risk Factors:Alternative Name: Cerebroside lipidosis, glucocerebrosidase deficiency.A lysosomal storage disorder due to a deficiency of glucocerebrosidase resulting in accumulation of glucocerebroside. This occurs most severely in infants. The major symptoms include hepatosplenomegaly, hematologic abnormalities, bone lesions, neurological manifestations with ataxia, spastic paraplegia, seizures, and dementia, and presence of characteristic histiocytes in the viscera. Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population.Types:Type I, noncerebral juvenile.
Type II, cerebral juvenile.
Type III, adult cerebral.
This is an autosomal recessive inheritance, caused by mutation in the glucocerebrosidase A gene (GBA) on chromosome 1q21. To date, more than 200 mutant alleles have been identified, which have been found to code for enzymes with either decreased stability or decreased binding affinity.Gaucher disease is caused by a deficiency of an enzyme called glucocerebrosidase, which normally breaks down a fatty substance called glucocerebroside. This substance is constantly being produced by the body during the recycling of white and red blood cells, and in the brain during development and formation of the myelin sheaths around nerves. When it can't be broken down properly, it accumulates within another type of cell called a macrophage, which usually has the job of removing bacteria and foreign bodies from the blood and tissues. The clinical features and course of the disease can vary among patients with the same genotype.Gaucher disease is an inherited condition, where both parents carry the abnormal gene for the disease. When a baby inherits two copies of the faulty gene, one from each parent, they develop the condition.Gaucher disease may occur in people of any ethnic background, but type I is particularly common among people of Ashkenazi Jewish descent, nearly ten per cent may carry the gene, and up to one in 1,000 have the condition.Symptoms:Anemia.
Diagnosis:This disease misdiagnosed with disease such as:Leukemia.
Chronic granulocytic leukemia.
Initial diagnosis of Gaucher's disease may be difficult due to wide variability in symptomatology.An evaluation of signs and symptoms can help physicians arrive at a preliminary diagnosis; several tests are available for confirmation. In the past, invasive bone-marrow tests were most common.Today, enzyme assays can be used to measure glucocerebrosidase activity in cells obtained from the patient, providing definitive diagnosis of Gaucher's disease.Leukocyte and beta-glucocerebrosidase Enzyme Assay- This is the most important test that should be done. This test can identify patient enzyme activity, which is necessary to introduce an appropriated therapy. This test is not good for heterozygous detection.DNA-Based Mutation Analysis- DNA analysis is of great value for all individuals with glucocerebrosidase deficiency to confirm diagnosis, but is not predictive of clinical course. This test is more accurate to identify heterozygous.Treatment:There's no exact cure for Gaucher's disease, although some researchers hope that one day gene therapy may provide the answer. More recently, enzyme replacement therapy has become commercially available and has been successful in slowing and reversing the progression of many symptoms of Gaucher Disease. However in those with established type 2 Gaucher Disease, ERT (enzyme replacement therapy) seems to have little effect on the progressive downhill course. A bone marrow transplant may be needed in severe cases.Other uncommon treatments which may be used in some cases include substrate reduction therapy, chemical chaperone therapy.Disclaimer: The above information is just informative purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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