41. Introduction: Niemann-Pick Disease - WrongDiagnosis.com Introduction niemannpick disease. niemann-pick disease Genetic disease causing fatty deposits. niemann-pick disease niemann-pick http://www.wrongdiagnosis.com/n/niemann_pick_disease/intro.htm

Diseases IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Niemann-Pick disease Next sections Basic Summary for Niemann-Pick disease Prognosis of Niemann-Pick disease Types of Niemann-Pick disease Symptoms of Niemann-Pick disease ... Misdiagnosis of Niemann-Pick disease Next chapters: Occipital Neuralgia Chronic pain Neuralgia Ohtahara Syndrome ... Feedback Introduction: Niemann-Pick disease Niemann-Pick disease: Genetic disease causing fatty deposits. Niemann-Pick disease: Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. Contents for Niemann-Pick disease: Basic Summary for Niemann-Pick disease Prognosis of Niemann-Pick disease Types of Niemann-Pick disease Symptoms of Niemann-Pick disease ... Research for Niemann-Pick disease Footnotes: 1. excerpt from

42. Niemann-Pick Disease, DNA Analysis niemannpick Disease, DNA Analysis. Number. 511329. This test detects ~95% of the mutations responsible for niemann-pick disease, types A and B in Ashkenazi Jews. http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg003400.htm

Niemann-Pick Disease, DNA Analysis Number CPT Synonyms Acid Sphingomyelinase Gene; Jewish Heritage Specimen Whole blood, amniotic fluid, or chorionic villus sample (submission of maternal blood is required for fetal testing) Volume 7 mL Minimum Volume 3 mL Container Lavender-stopper (EDTA) tube; sterile plastic conical tube or two confluent T25 flasks for fetal testing Storage Instructions Maintain specimen at room temperature or refrigerate. Causes for Rejection Frozen specimen; hemolysis; quantity not sufficient for analysis Use Identification of carrier and affected individuals for four mutations associated with Neimann-Pick disease, types A and B Limitations Methodology Polymerase chain reaction (PCR) and allele-specific oligonucleotide (ASO) analysis References Genet Test , 1997, 1(1):13-9 (review).

43. Niemann-Pick Disease - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List niemannpick disease. niemann-pick disease is hereditary and follows an autosomal recessive pattern. http://www.medterms.com/script/main/art.asp?articlekey=10149

44. Niemann-Pick Disease Type C - Cholesterol: Health And Medical Information About MedicineNet Home MedTerms medical dictionary AZ List Cholesterol Home niemannpick disease type C. niemann-pick disease type C Abbreviated NPC. http://www.medterms.com/script/main/art.asp?articlekey=24530

45. CCHS Clinical Digital Library Clinical Resources by Topic Metabolic Disorders. niemannpick Diseases Clinical Resources. Miscellaneous niemann-pick Disease Clinical Resources. http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingoli

Clinical Resources by Topic: Metabolic Disorders Niemann-Pick Diseases Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Resources Niemann-Pick Disease Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document Neutral Glycosphingolipid Lipid Storage Disorders: Access document Chapter 259: Interstitial Lung Diseases: Table of contents Individual Forms of ILD: Access document Inherited Disorders Associated with ILD: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult):

46. CCHS Clinical Digital Library niemannpick Diseases Patient/Family Resources. National niemann-pick Disease Foundation Homepage; National Tay-Sachs and Allied Diseases Association Homepage http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphing

Patient/Family Resources by Topic: Metabolic Disorders Niemann-Pick Diseases Patient/Family Resources Spanish Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Resources Niemann-Pick Diseases Clinical Resources National Niemann-Pick Disease Foundation: Homepage National Tay-Sachs and Allied Diseases Association: Homepage Profiles of Allied Diseases: List of documents Niemann-Pick Disease: Access document National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Niemann-Pick Disease: Access document MEDLINE plus Medical Encyclopedia: Table of contents Niemann-Pick: English Spanish Merck Manual - Second Home Edition Table of contents Section 23. Children's Health Issues: Table of contents Chapter 282. Hereditary Disorders of Metabolism: Table of contents Introduction: Access document Lipid Metabolism Disorders: Access document Introduction: Access document Niemann-Pick Disease: Access document Spanish MEDLINE plus Medical Encyclopedia: Table of contents Niemann-Pick: English Spanish Miscellaneous Niemann-Pick Diseases Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Niemann-Pick Disease: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources (

47. Niemann-Pick Translate this page P. Bauer et al. Genetische Organisation und polymorphe Loci des Kandidatengens der niemann-pick`schen Erkrankung Typ C (73. Jahrestagung http://neurologie.med.uni-rostock.de/Fors_Diag/Forschung/Neurobiologie/Lipidosen

DRG’s Leitlinien zurück Niemann-Pick National Institute of Neurological Disorders and Stroke Home Page National Niemann-Pick Disease Foundation, Inc. NPD-Selbshilfegruppe Deutschland NPC1 ist als Kandidatengen der autosomal rezessiven Niemann-Pickschen Erkrankung Typ C (NP-C) bekannt und ist in über 90% aller Erkrankungsfälle mutiert. Der ausgeprägteste zelluläre Phänotyp von NP-C ist die perinukleäre Akkumulation von unverestertem Cholesterol und ein verzögertes Ansprechen Cholesterol-responsiver Stoffwechselwege auf exogen zugeführtes Cholesterol. Die Analyse eines wahrscheinlichen Signalpeptides und transmembranöser Domänen von NPC1 unterstützt die Hypothese, daß NPC1 im Golgi-Apparat, Endoplasmatischen Retikulum oder der Plasmamembran lokalisiert sein muß. Immunzytochemische Untersuchungen an Fibroblasten zeigen, daß eine distinkte Organelle, welche das NPC1 Protein enthält, den Transport lysosomaler Bestandteile zu anderen Zellkompartimenten leistet. Dieser Stoffwechselweg ist nicht auf Cholesterol beschränkt. Dabei spielt das Signalpeptide der N-terminalen Region eine kritische Rolle bei Mobilisation von Cholesterol aus den Lysosomen. Bislang sind ein knappes Dutzend Mutationen im NPC1 Gen bei NP-C Patienten beschrieben worden.

48. Elliott Lister, Niemann-Pick Type C Disease On Monday 15th September 2003, Elliott lost his battle with niemannpick Type C Disease (NPC).He had breathing difficulties on the Saturday and was admitted to http://www.niemann-pick.freeserve.co.uk/

Free search engine submission and placement services! Elliott Lister Niemann-Pick Type C Disease Welcome you are visitor number FastCounter by LinkExchange Who is Elliott Lister? On Monday 15th September 2003, Elliott lost his battle with Niemann-Pick Type C Disease (NPC) He had breathing difficulties on the Saturday and was admitted to Intensive Care. On the Sunday morning he deteriorated and it was clear that he would not be able to breathe on his own for much longer. We decided that he had fought enough and was tired. We took him home on the Sunday evening and he died peacefully at 3am Monday morning, just 2 days before his 9th birthday. In memory of Elliott and all he acheived, this website will remain active so that we may continue the battle against Niemann-Pick disease. Please continue to contact us if you'd like information, support or would like any photographs placed on the gallery page. Elliott undergoing EEG test at NIH in 1996. National Institutes of Health Elliott Aged 8 years Sep 2002 What is Niemann-Pick Disease Equipment Photo Gallery of all Children Other Related Sites ... Press Articles How You Can Help We invite you to come to one of our fund raising events Or you can make donations directly into Elliott's Account Oxted Branch, Surrey

49. What Is Niemann Pick Disease Brief description of niemannpick Type C Disease. What is niemann-pick Disease? Niemann Back to top. niemann-pick Type C Disease. In http://www.niemann-pick.freeserve.co.uk/description.htm

Brief description of Niemann-Pick Type C Disease What is Niemann-Pick Disease? Niemann-Pick Type C Disease What are the signs and symptoms of Niemann-Pick Type C? How is NPC Diagnosed? ... Home What is Niemann-Pick Disease? Niemann-Pick Disease is a genetic disorder that constitutes of a group of rare, inherited metabolic diseases that occur most frequently in children but can also affect adults. The three most commonly recognised forms are types A, B and C. Elliott is affected with Niemann-Pick Type C. Back to top Niemann-Pick Type C Disease In learning about NP-C, you need to realise that it is not the same disorder as Niemann-Pick Disease Types A or B. In types A and B the principle problem in the body is a deficiency of an enzyme called "sphingomyelinase" which breaks down a fatty material called "sphingomyelin". When sphingomyelin cannot be broken down in types A and B it is stored in various organs of the body. In contrast, cholesterol is the principal material being stored in NP-C, rather than sphingomyelin. Cholesterol inside cells is normally used either to build the cell, or is bound in a form called ester. In the case of an individual with NP-C, there are great amounts of cholesterol that are not used as a building material and do not form esters. This cholesterol accumulates within the cells throughout the body, but especially in the spleen, the liver, the bone marrow and the central nervous system. It is believed that the accumulation of cholesterol is responsible for the development of the clinical symptoms.

50. Niemann-Pick From Linkspider UK Health Directory Directory Topic niemannpick assoicated to Health. About this foundation whose goal is to find a cure for the devastating niemann-pick Type C disease. http://linkspider.co.uk/Health/ConditionsandDiseases/NutritionandMetabolismDisor

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Niemann-Pick assoicated to Health Directory Tree: Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Niemann-Pick ( See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic Health: Conditions and Diseases: Rare Disorders Ara Parseghian Medical Research Foundation - About this foundation whose goal is to find a cure for the devastating Niemann-Pick Type C disease.

51. National Human Genome Research Institute - 1997 News Release, Niemann-Pick Type News Release Archives 1997 1998 1997 News Release, niemannpick Type C Gene, NIH Scientists Identify Gene for Fatal Childhood Disorder, niemann-pick Type C. http://www.genome.gov/10000889

1997 News Release, Niemann-Pick Type C Gene NIH Scientists Identify Gene for Fatal Childhood Disorder, Niemann-Pick Type C Finding Points to Critical New Steps in Cholesterol Processing July 1997 BETHESDA, Md. - After decades of work, scientists at the National Institutes of Health (NIH) have identified a gene alteration associated with the fatal childhood cholesterol disorder Niemann-Pick type C (NPC). Learning how the gene functions may lead to the first effective treatment for the disease and to a fundamental new understanding of how cholesterol is processed in the body. The gene, known as NPC1, is located on human chromosome 18. NPC causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells. The finding opens the door to improved diagnosis and understanding of this neurological disorder, which is usually fatal by age 25, and to the design of therapies that may correct the underlying problem. The finding also may contribute to the understanding of atherosclerosis, a more common killer associated with cholesterol buildup. Atherosclerosis is an accumulation of fatty tissue inside arteries that blocks blood flow, leading to heart disease and stroke. "This discovery is an excellent example of how research on rare brain disorders often pays off in other ways," says Zach W. Hall, Ph.D., director of the National Institute of Neurological Disorders and Stroke (

52. Niemann-Pick B niemannpick B. niemann-pick B disease is an autosomal recessive genetic disorder that occurs in a higher incidence among the Ashkenazi Jewish population. http://www.genzyme.ca/thera/pickb/ca_en_p_tp_thera-pickb.asp

We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Genzyme Canada Inc. Home Genzyme Corporate Home Search Contact Us ... Diagnostic Treatments Niemann-Pick B Niemann-Pick B disease is an autosomal recessive genetic disorder that occurs in a higher incidence among the Ashkenazi Jewish population. The term "Niemann-Pick" refers to a group of diseases which affect metabolism and are caused by specific genetic mutations. The most commonly recognized forms of the disease are Types A & B. Niemann-Pick A & B is caused by the deficiency of a specific enzyme "acid sphingomyelinase" or ASM. This enzyme is ordinarily found in the compartments within cells called lysosomes. These lysosomes are required to metabolize a special lipid, called sphingomyelin. If the enzyme ASM is absent or not functioning properly it will not break down sphingomyelin and will accumulate within the cell. This accumulation will eventually cause cell death and lead to the malfunction of major organ systems. Patients who are diagnosed with Type B may survive into late childhood or adulthood but the enlargement of organs (liver and spleen) and respiratory problems associated with this disease can cause cardiovascular stress and can lead to heart disease later in life. Genzyme Canada is committed to provide support to patients and families of sufferers affected by this debilitating disease through education of healthcare providers and by developing treatments through new research to improve the overall quality of life those affected.

53. À Propos De La Maladie De Niemann-Pick De Type B Translate this page À propos de la maladie de niemann-pick de type B. La maladie de niemann-pick de type B est une maladie génétique transmise sur http://www.genzyme.ca/thera/pickb/ca_fr_p_tp_thera-pickb.asp

We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Page d’accueil de Genzyme Canada Inc. Page d’accueil de Genzyme Recherche Pour nous joindre ... Traitements diagnostiques RENSEIGNEMENTS : Genzyme Canada Bureau canadien 2700 Matheson Blvd. East East Tower, Suite 800 Mississauga (Ontario) L4W 4V9 Canada N o N o N o var SA_ID="genzyme;genzyme"; Conditions générales d’utilisation Politique de confidentialité

54. Niemann Pick Disease National Organization for Rare Disorders, Inc. Niemann Pick Disease. niemannpick disease (NPD) is a group of rare inherited disorders of fat metabolism. http://www.bchealthguide.org/kbase/nord/nord93.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord93"; var hwDocTitle="Niemann Pick Disease"; var hwRank="1"; var hwSectionHWID="nord93"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Niemann Pick Disease Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Lipid Histiocytosis Lipidosis, Sphingomyelin NPD Sphingomyelinase Deficiency Disorder Subdivisions Nieman Pick disease Type A (acute neuronopathic form) Nieman Pick disease Type B Nieman Pick Disease Type C (chronic neuronopathic form) Nieman Pick disease Type D (Nova Scotia variant) Nieman Pick disease Type E Nieman Pick disease Type F (sea-blue histiocyte disease) Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Gaucher disease Refsum syndrome Sandhoff syndrome Sialidosis Tay-Sachs disease General Discussion Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the enzyme acid sphingomyelinase (ASM), which is needed to break down sphingomyelin, a fatty substance found mostly in the brain and nervous system. This deficiency results in abnormal accumulation of excessive amounts of sphingomyelin in many organs of the body such as the liver, spleen, and brain. Symptoms of type C occur because of an inability to breakdown cholesterol, which results in abnormally excessive amounts of cholesterol accumulating in various organs of the body.

55. :: Ez2Find :: Niemann-Pick Guide niemannpick, Global Metasearch Any Language Guides, niemann-pick. ez2Find Home Directory Health Conditions http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Niemann-Pick Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Niemann-Pick ez2Find Home Directory Health Conditions and Diseases ... Cholesterol and Other Fats : Niemann-Pick Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Brain Diseases: Metabolic Health: Conditions and Diseases: Rare Disorders Web Sites Ara Parseghian Medical Research Foundation [Site Info] [Translate] [Open New Window] About this foundation whose goal is to find a cure for the devastating Niemann-Pick Type C disease. URL: http://www.parseghian.org/apmrfweb/

56. Nutrition And Metabolism Disorders, Cholesterol And Other Fats, Niemann-Pick More niemannpick Categories » Submit Your Site to the niemann-pick category. Sponsored niemann-pick Sites. Submit Your Site to the niemann-pick category. http://www.iseekhealth.com/niemann-pick-2165.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Niemann-Pick More Niemann-Pick Categories: Submit Your Site to the Niemann-Pick category Sponsored Niemann-Pick Sites Do You Have High Cholesterol? One in five people has high cholesterol. Find out what you can do to control it. All-Natural Cholesterol Reduction Blend Proprietary herbal formula lowers high serum cholesterol, improves circulation and prevents cholesterol build-up on arterial walls. Guaranteed results. Secure ordering. Cholesterol Tests, Cholesterol and Your Health Cholesterol and lipid testing information for the physician/laboratorian and for the patient community. Patients - learn more about controlling and monitoring your cholesterol levels. Cholesterol: MedicaPharma.com Sells famous FDA approved brand name and generic medications with or without prescription, high quality, low prices, secure ordering, free shipping. Buy Medications From Canada and Save!!

57. Niemann-Pick- Medcohealth.com niemannpick. Source ADAM, Inc. Updated December 2003. Definition. niemann-pick disease is caused by specific genetic mutations. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

58. Niemann-Pick - Información General Translate this page niemann-pick - Información general. - Células espumosas de niemann-pick. http://pcs.adam.com/ency/article/001207.htm

Regresar a " - " Partes del cuerpo Enfermedades Lesiones Envenenamiento Temas especiales ... V W X Y Z Enfermedades ... Z Niemann-Pick - Información general Células espumosas de Niemann-Pick Información general Prevención Síntomas Tratamiento Definición: Enfermedad hereditaria caracterizada por almacenamiento anormal de colesterol y esfingomielina en varios tejidos corporales y daño neurológico progresivo. Causas, incidencia y factores de riesgo: La enfermedad de Niemann-Pick (Tipo A) se hereda como un trastorno autosómico recesivo y es más frecuente entre los judíos asquenacis que en cualquier otro grupo étnico. La enfermedad se produce por la ausencia de una enzima , la esfingomielinasa, dando como resultado el almacenamiento de cantidades anormales de esfingomielina y colesterol en el cerebro, la médula espinal, el hígado y el bazo. El daño cerebral es lo que origina los síntomas neurológicos. Los síntomas pueden comenzar en los primeros meses de vida con problemas de alimentación y retraso en el desarrollo motor. Aunque es posible lograr algunas habilidades motoras, hay una rápida regresión de éstas a medida que el niño pierde fuerza y tono muscular . Los demás daños neurológicos son pérdida de la visión y pérdida de la audición progresivas. La enfermedad avanza con rapidez y la muerte ocurre en los primeros años de vida.

59. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Niemann-Pick niemannpick Disease, Type A. Diagnosis Laboratory testing looking for deficiency of a specific enzyme or by genetic testing of the niemann-pick gene. http://www.jewishgeneticscenter.org/what/ashkenazi/niemann.asp

Ashkenazi Disorders: Mendelian Niemann-Pick Disease, Type A This disease is caused by a deficiency of an enzyme called sphingomyelinase, an enzyme responsible for breaking down a specific fat in the body. Lack of sphingomyelinase causes an accumulation of this fat in various body organs. There are several subtypes of this condition. Type A is seen with increased frequency in those of Jewish ancestry. In type A, accumulation also occurs in the brain and nervous system which causes rapid deterioration and death 2-3 years of age. No cure or effective treatment is available. Disease frequency: 1 in 40,000 for type A in the Jewish population. Carrier frequency: As high as 1 in 70 for those of Jewish ancestry. Diagnosis: Laboratory testing looking for deficiency of a specific enzyme or by genetic testing of the Niemann-Pick gene. Inheritance: Autosomal Recessive Carrier testing: Available by testing of the Niemann-Pick gene. Prenatal diagnosis: Available to those with an affected child or to couples identified to be at risk by carrier testing. Technical Information on Niemann-Pick Disease, Type A

60. Disease - Niemann-Pick - Hartford, Connecticut , Saint Francis Care Adam Article Manager, Back. Back to main Health Information page Disease niemann-pick. Definition niemann-pick disease is caused by specific genetic mutations. http://www.saintfranciscare.com/13052.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Niemann-Pick Niemann-Pick foamy cells Definition: Niemann-Pick disease is caused by specific genetic mutations. The four forms of Niemann-Pick Disease are all characterized by an accumulation of sphingomyelin and cholesterol in cells, particularly in the cells of major organs, such as the liver and the spleen. The three most commonly recognized forms of the disease are Types A, B and C. Alternative Names: Sphingomyelinase deficiency (type A Niemann-Pick disease) Causes And Risk: All types of Niemann-Pick are genetic diseases that are inherited in an autosomal recessive manner. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM). If ASM is absent or not functioning properly, sphingomyelin cannot be metabolized properly and is accumulated within the cell, eventually causing cell death and the malfunction of major organ systems. Type C Niemann-Pick is very different from types A and B. Patients with Type C are not able to metabolize cholesterol and other lipids properly. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. The defect in metabolism occasionally leads to a secondary reduction in ASM activity in some cells.

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