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Gaucher Disease Research Paper

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• Gaucher disease (glucocerebrosidase deficiency) is a rare autosomal recessive genetic disorder. It is classified as a lysosomal storage disorder and is determined to be one of the most prevalent.
• Gaucher disease (GD) is an inherited disorder caused by a lysosomal enzyme deficiency. It is an autosomal recessive disease. This means that both parents must carriers of the mutation in order to pass it to their child. This disease occurs when there is a build-up of a lipid, called glucosylceramide, due to the lack of the enzyme that breaks down this lipid. This allows for glucosylceramide to accumulate in bodily tissues such as the lungs, liver, bone marrow, spleen, and even can occur in the brain. Glucosylceramide is a huge component of the …show more content…
This disease has a wide range in severity that includes perinatal death to patients that are asymptomatic. Gaucher disease can present at any age with a variety of symptoms. As previously stated, there are three subtypes of GD depending on the course of the disease, the clinical features, and ethnicity of the person. Type 1 is the most common and is distinguishable from the other two due to the lack of central nervous system involvement. The neuronopathic GD are type 2 (acute) and type 3 …show more content…
Children who are severely affected by this disease have a faster progression, whereas an adult with a mild case of the disease produces more. It has been found that in untreated patients they may experience stabilization of their disease complications as well as regression of any symptoms. This disease is considered progressive but it as a different rate amongst individuals. In a 2008 study, the average life expectancy of someone with GD1 was 68 years old in comparison with the United States average of 77 years old.1 Symptomatic patients succumb to the disease more often due to complications associated with GD manifestations. Also, patients who have Gaucher disease seem to have a higher rate of hematologic malignancies. Out of the three types of Guacher disease, GD2 has the lowest life expectancy. A child with GD2 usually passes from the disease before the age of two with an average of 11.7 months.2 This is attributed to the rapid progression of Gaucher disease type 2. Gaucher disease type 3 is more advancing and severe than type

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