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Lysosomal Storage Disease

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Lysosomal Storage Disease

  1. 1. Lysosomal Storage Disease <ul><li>BY: RACHAEL ANDERSON </li></ul><ul><li>FOR </li></ul><ul><li>HONORS BIOLOGY </li></ul>
  2. 2. Causes of Lysosomal Diseases <ul><li>There are about over 40 lysosomal diseases. </li></ul><ul><li>These diseases are caused by a lack of enzymes that normally eliminate unwanted substances in the cells of the body. </li></ul><ul><li>The enzymes are located in the lysosomes, which act like a ‘recycling center’ in the cell. </li></ul><ul><li>Lack of these enzymes causes a build-up of unwanted substance, resulting in abnormal storages that cause insufficient functioning and damage to the body’s cells. </li></ul>
  3. 3. Effects of Lysosomal Diseases <ul><li>The diseases lead to a variety of progressive physical and/or mental deterioration over time. </li></ul><ul><li>Some of the diseases may present in a &quot;mild&quot; form, and others with a more severe impact on the patient, such as a swollen knee cap or clawed hand, just like shown in the pictures. </li></ul><ul><li>Some patients survive into adulthood, but others with more severe symptoms may die in their teens or earlier.  </li></ul>
  4. 4. Prognosis of LSD’s <ul><li>Lysosomal diseases also exist in atypical forms or typical form. </li></ul><ul><li>The typical form is where the enzyme will be at very low or undetectable levels, leading to the full set of symptoms. </li></ul><ul><li>The atypical forms is where there may be a reduced level of enzyme that leads to reduced presentation of symptoms. </li></ul><ul><li>The incident pf LSD’s is about 1 in 5,000 live births and the average life expectancy across the whole group is about 15 years </li></ul>
  5. 5. Types of Lysosomal Disease <ul><li>The 40 types of Lysosomal Diseases include : </li></ul><ul><li>Fabry Disease - causes kidney and heart problems, pain and skin rashes. </li></ul><ul><li>Gaucher Disease - causes the spleen to enlarge, anemia and bone lesions if untreated. </li></ul><ul><li>Hurler Syndrome - causes deformities of the skeleton and facial features, enlargement of the spleen and liver, joint stiffness, clouding of the cornea, mental retardation and deafness. </li></ul><ul><li>Niemen-Pick B Disease - leads to enlargement of the spleen and liver, as well as lung disease. </li></ul><ul><li>Pomp Disease - an often fatal storage disease in which glycogen builds up in the liver, heart and muscle, especially during infancy (also known as acid maltase deficiency). </li></ul><ul><li>Toy-Sachs Disease - a lysosomal storage disease that occurs more commonly in people of Eastern European Ashkenazi descent and causes degeneration of the brain in infants. </li></ul>
  6. 6. Victim of a Rare Disease <ul><li>A victim of this inherited recessive trait is Jack Peacock, a four year old boy that was diagnosed with a genetic disease at 39 weeks, called Hunter Syndrome. </li></ul><ul><li>Hunter Syndrome was a disease so rare that there were only two living boys in New Zealand today with that disease. </li></ul><ul><li>This type of disease have a prognosis to affect both mentally and physically, by slowly and painfully shutting down all of his cells, until his little body could no longer cope. </li></ul><ul><li>So far, Jack has needed medication for vomiting, hearing aids, surgery on both hands, grommets inserted, tonsils and adenoids removed, plus sleep studies due to sleep apnea. </li></ul><ul><li>There is no cure, so doctors can only treat the symptoms as they occur. </li></ul>
  7. 7. End of Presentation <ul><li>Lysosomal Storage Disease </li></ul><ul><li>Author: Rachael Anderson </li></ul><ul><li>Publisher: Ms. Jennifer Kelley </li></ul>

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