Essay On Niemann Pick Disease

1272 words - 6 pages

Niemann-Pick disease isn't actually one disease at all; it actually is a term used to represent a group of diseases which affect the metabolism. Each member of the group is a direct result of genetic mutations. Of the group, the three most common and most recognized forms of are Types A, B, and C.Types A and B or Niemann-Pick disease are both causes by the insufficiency of the enzyme acid sphingomyelimase, also known as ASM. Sphingomyelimase is normally found in the lysosome of the cell and is needed to metabolize the lipid sphingomyelin. If this enzyme, ASM, is gone or not working properly, the result is disastrous. The lipid sphingomyelin will not be metabolized and will be accumula ...view middle of the document...

This defect in the metabolization process leads to a secondary reaction which is a reduction is the production of ASM. Because of this action, and the same action occurring in each of the previous two versions of the disease, all forms of the gene were collectively known as "Niemann-Pick Disease." Of course though, this was before the great differences were fathomed about the biochemical aspect of the ailment.Type D of Niemann-Pick had only been found in one case, in the French-Canadian population of Yarmouth County, Nova Scotia, and is now though to be just another variant of Type C. Genealogical research has uncovered that Joseph Muise and Marie Arruirault, both living circa 1680-1735, are the most likely origin for this type of the disease.Finally, the next and last version of Niemann-Pick Disease is Type E. This type has not yet been confirmed, but is very highly suspected due to a number of cases that have been stumbled upon in adults who have been found with some of the same tissue and chemical changes as in Type C, but with a very late onset of the symptoms.Just as the different types of Niemann-Pick vary, so do the symptoms of each. For Type A Niemann-Pick Disease, many symptoms occur, all during the first few months of life. Some of these symptoms are feeding difficulties, an overlarge abdomen within three to six months, progressive loss of early motor skills, a cherry red spot in the eye, and, in most but not all cases, a very rapid decline leading to death by two or three years of age. Type B is very similar to Type A, but the symptoms are just a bit more variable. Abdominal enlargement is a reality, as in the first type, but, since the neurological system isn't damaged for the most part, neurological skills aren't affected, such as loss of motor skills. Along with the symptoms listed, respiratory infections are also present most of the time when dealing with Type B Niemann-Pick Disease.Type C of Niemann-Pick Disease usually affects kids about the age of just starting school, but the disease isn't limited to this time frame in one's life. Some of the symptoms include jaundice at birth, an enlarged spleen and or an enlarged liver, difficulty with upward and downward eye movements, also knows as Vertical Supranuclear Gaze Palsy, or VSPG, and unsteadiness of gait, clumsiness, or problems with walking, difficulty in posturing ...

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