Niemann Pick Disease Essay

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 accumulated ...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 the...

Other Essays On Niemann-Pick Disease

Comparative Essay. "Heart Of Darkness" By Joseph Conrad And William Golding's "Lord Of The Flies"

2729 words - 11 pages It can be said that a certain degree of darkness lies within every person, but this darkness will not surface unless given the correct environment. The darkness, however, can emerge and ultimately destroy the person if not checked by reason. If one's inner darkness does surface, the victim then is given the opportunity to reach a point in personal growth, and to gain a sense of self-knowledge from it. That is, when one's darkness appears, one

This Is An Essay On The Woman In The Odyssey And Their Influences On His Travels

993 words - 4 pages The Odyssey is an epic about a Greek warrior in the Trojan War whose wanderings around his known world and his perilous encounters are the basis of the story. Odysseus' absence from his home is prolonged by the influences of the women whom he encounters.In this epic, several female characters had a profound effect on the plot. They wielded their influence through typically feminine skills and attributes: seduction, supernatural powers

Title:Aggressive and Passive. Compare characters in the Handmaid's Tail between Hamlet. Offred is aggressive while Ophelia is passive

537 words - 3 pages Aggressive and PassiveAggressive and Passive are two inverse attitudes to things, events or life. They cause different results. Offred and Ophelia are two women who have contrary destinies because of their different attitudes.Offred is a powerless woman in "the Handmaid's Tale". She's a handmaid of a commander in Gilead. She has no freedom. She belongs to him as a property. Her only duty is to have sex with the commander and give birth to a baby

Black Boy vs Grapes of Wrath

444 words - 2 pages Even though the books of Black Boy and Grapes of Wrath gave a vivid picture of the past American life to the readers regarding the socio-economic bigotry. Both books are similar in focusing the social and economic discrimination in the family setting. On Grapes of Wrath the California prejudice against the immigrants. Prejudice was a strong word, which leaves a bitter taste in the mouth. It is the prejudice against the migrant workers by the

Leprosy ; includes what bacteria it is caused by, the orgin of the disease, how many people are affected by it in the united states and in alaska during 1999 and 2000, and more. 3 pages long

524 words - 3 pages Leprosy is very dangerous for your personal health. It can make you skin fall off. Leprosy slowly eats away at you body. It is deadly to all genders, all ages, all sizes and all races.Another name for leprosy is Hansen's Disease. Leprosy is caused by the organism mycobacterium leprae. The pathogen that carries it is bacteria. Throughout the years people have suspected that inhaling and touching the bacteria could spread leprosy.Symptoms of

Reality Vs. Appearance - Hamlet

978 words - 4 pages In the play "Hamlet," Shakespeare's characters are confronted with the timeless question: How can one determine what is actually true from what only seems to be true? Throughout the play, the theme of appearance versus reality is constant. This theme is played out from the beginning, with Claudius' attempt to conceal his secret intentions; Gertrude and Ophelia masking their own truths, and finally Hamlet, who assumes the role of a madman in order

My favorite place

320 words - 2 pages Among the places where I have traveled, I especially like Fort Lauderdale very much. It fills me with beautiful memories. It reminds me of the days when I lived in Vietnam where I was born, especially the coconut trees, the hot and humid weather are like Vietnam. Fort Lauderdale has almost all the tropical fruits like jack fruit, durian, and longan. All these fruits are not grown in California.I usually come to Fort Lauderdale for a vacation. I

Mockery And Superiority In Canzone: Supported By Areopagitica Examines John Milton's Use Of Mockery And Superiority In The Poem Canzone; Supported By Areopagitica

1210 words - 5 pages PAGE PAGE 4 Zimmer Rachel ZimmerProf. GraffMilton: ENGL 420June 10, 2002Mockery and Superiority in Canzone:Supported by AreopagiticaMockery, as well as a sense of pride and/or superiority comes out in many of Milton's works and he exemplifies this by writing in ways that seems to humble himself, charm the subject of the poem, and yet scoff at him/her at the same time as well as prove his high intellect. Milton's often-circular logic exemplifies

Trichotillomania-Physcology 101 paper. Paper on an OCD diagnosis. This paper was written as term paper

562 words - 3 pages TrichotillomaniaTrichotillomania is a term coined by a French dermatologist in 1889 to describe the compulsive or irresistible urge that he saw in patients to pluck their hair out. The word trichotillomania is a Greek work meaning hair to pull, pluck, mania, frenzy, and madness. This is somewhat misleading as trichotillomania is referred to in psychiatry as an impulse disorder not a "madness" at all.Impulse control disorders are characterized by

Romeo And Juliet's Love Is Not Real Love, But Only An Idea Of The Real Aspect Of True Love

1161 words - 5 pages Romeo and Juliet is an awesome play written by William Shakespeare in the 15th century. This play is based upon two lovers, Romeo and Juliet, who in just a short period of three days meet, marry, make love, and die. Romeo is a Montague and Juliet is a Capulet. These two families have gone by many generations with hate towards one-another. Neither family can forgive and forget whatever argument had been started many decades ago. Although the two

Jean Rhys Novel

289 words - 2 pages In Jean Rhys's compelling novel about racial tension amidst confusion and anxiety, the author addresses this subtext in such a way as to portray Antoinette as a product of an intolerant society. While more of an underlying theme, the character's racial inner struggles in Wide Sargasso Sea represent a significance to the story's overall flavor and intensity, being that Antoinette is torn the entire time between calling herself black or white. Who

Similar Papers

Character In "The Yellow Wallpaper" By Charlotte Perkins Gilman

1587 words - 7 pages The short story 'The Yellow Wall-Paper' written by Charlotte Perkins Gilman is a cry for freedom. This story is about a woman who fights for her right to express what she feels, and fights for her right to do what she wants to do. The narrator in this short story is a woman whose husband loves her very much, but oppresses her to the point where she cannot take it anymore. This story revolves around the main character, her oppressed life, and her

Edgar Allen Poe's View Of Death In "The Fall Of The House Of Usher"

1836 words - 8 pages the sullen waters of the tarn'(Poe, 6-13) . This 'fissure' is presented to the reader, early in the story, to represent that Roderick's love for his twin sister, Madeline, was dying, because she was suffering from a mysterious malady, or disease, that baffled her doctors. This caused Roderick to be emotionally and physically depressed, and was described as a madman at this point. 'He was convinced that his whole surroundings, the stones of the

"Slaughterhouse Five" By Vonnegut Essay

2264 words - 10 pages world. The price for a 'guilt free' life is the most precious part of human life, emotions. (Tanner 198)With the Tralfamdorian view comes another steep price, free will. Billy is told by the Tralfamadorians that free will is a uniquely human belief. (Schatt 82) He is told that war, disease, and even the end of the universe is all pre-determined, and that nothing he does can change what will happen. The notion of free will is what gives human life

Psychoanalysis And Freud

2420 words - 10 pages Psychoanalysis is a system of psychology originated by the Viennese physician Sigmund FREUD in the 1890's and then further developed by himself, his students, and other followers. It consists of three kinds of related activities: (1) a method for research into the human mind, especially inner experiences such as thoughts, feelings, emotions, fantasies, and dreams; (2) a systematic accumulation of a body of knowledge about the mind; and (3) a