Niemann Pick Disease

Question: What is the history of Niemann-pick disease? I need a website that has the history of the niemann-pick disease for homework. Please help and provide links. Thank you

Answer: History: The first case of infantile-onset Niemann-Pick disease was described in 1914 by the German neurologist Albert Niemann. Niemann described a young child with an enlarged liver and spleen, enlarged lymph glands, swelling and a darkening of the skin of the face. The child had brain and nervous system impairment and died before the age of two. Later, in the 1920's, Luddwick Pick studied tissues after the death of such children and provided evidence of the new disorder. Problem in assignments? Homeworks? Visit this site: ask4mytutor Avail online tutorial services for FREE! 3:00pm to 12:00am PST

Question: What alteration to the genetic code causes the Niemann-Pick disease? I already know what chromosome it occurs on (for all types). However, I need to know what alteration causes it.

Answer: Takahashi et al. (1992) concluded that small deletions or nonsense mutations that result in truncated ASM polypeptide and missense mutations that render the enzyme noncatalytic cause type A Niemann-Pick disease, whereas missense mutations that produce a defective enzyme with residual catalytic activity cause a milder nonneuronopathic type B phenotype. Vanier and Millat (2003) stated that approximately 95% of patients with Niemann-Pick disease type C have mutations in the NPC1 gene, which encodes a large membrane glycoprotein primarily located to late endosomes, and the remainder have mutations in the NPC2 gene, which encodes a small soluble lysosomal protein with cholesterol-binding properties. In 2 patients with NPC2, Naureckiene et al. (2000) identified mutations in the HE1 (NPC2) gene (601015.0001-601015.0002). In 6 unrelated patients with NPC2, Verot et al. (2007) identified 5 different mutations in the NPC2 gene. The authors stated that a total of 15 disease-causing mutations had been identified in 22 unrelated families to date. E20X was the most common mutation, accounting for 34% of mutant alleles.

Question: what is the niemann-pick disease? what are symptoms and diagnosis, and prognosis of the niemann-pick disease? what treatments are available? what is the genetics of the disase-dominant or recessive, chromosome location? can the sufferer of this condition pass it to another person? can the condition be passed to offspring?

Answer: Niemann-Pick Disease From Mary Kugler, Group of storage disorders Storage disorders occur when the body is unable to break down certain enzymes, as it normally would, so the excess enzyme accumulates and causes damage to the body's cells. Niemann-Pick disease refers to a group of inherited storage disorders which affect how the body creates energy (metabolism). Certain groups have higher risk Niemann-Pick disease affects all groups of people and both males and females. However, certain populations have a higher incidence of the disease: Ashkenazi Jewish population (Types A and B) French Canadian population of Nova Scotia (variation of Type C) Maghreb region (Tunisia, Morocco, Algeria) of North Africa (Type B) Spanish-American population of southern New Mexico and Colorado (Type C) The three types of Niemann-Pick disease are commonly called Type A, Type B, and Type C. leads to accumulation of a fat (sphingomyelin) which damages cells severe neurological disease leads to death by 2 to 3 years of age most cases (85%) of Neimann-Pick are Type A Type B Niemann-Pick caused by deficiency of acid sphingomyelinase - approximately 10% of normal level leads to accumulation of sphingomyelin which damages cells little or neurological problems often live into adulthood Type C Neimann-Pick caused by inability to break down cholesterol leads to accumulation of cholesterol and other fats in liver, spleen, and brain neurological disease develops leads to death usually by age 20 most rare type of Niemann-Pick (possibly 500 cases worldwide) Symptoms variable One of the difficulties in correctly diagnosing Niemann-Pick disease is that its symptoms can be different in each person affected. Types A and C have neurological symptoms such as difficulty walking, speaking, and learning. Type B does not have these symptoms; the only clue to the disease may be repeated respiratory infections and an enlarged abdomen. Diagnosis Types A and B can be diagnosed by measuring the ASM activity in white blood cells; low levels would point to Niemann-Pick. Type C can be diagnosed by examining a skin sample (biopsy) for cholesterol storage. Research for treatments and cures As yet there are no definitive treatments or cures for any type of Niemann-Pick disease. Supportive care through nutrition, medication, physical therapy, and being followed by specialists can help with quality of life. The discovery in 1997 of the gene responsible for Niemann-Pick disease has helped focus research for treatments. Research has been taking several directions: Bone marrow transplantation has shown effectiveness in mice for Type B Enzyme replacement has shown effectiveness in mice for Type B Gene therapy has shown effectiveness in mice for Type A A medication called Zavesca showed some effectiveness in slowing Type C in mice. Information for this article was taken from: - National Niemann-Pick Disease Foundation. - Centurion, S. A. (2003). Niemann-Pick disease. eMedicine, accessed at http://www.emedicine.com/derm/topic699.h…

Question: What is Niemann Pick disease? My cousin has it....does anyone know what the disease actually is.... or know anyone who has it?

Answer: Hi Check this http://www.ninds.nih.gov/disorders/niema…

Question: Does anyone know who has the niemann-pick disease? like celebrities, polititians, etc. anyone who is famous

Answer: Unfortunately, people suffering from this disease are mentally retarded. There are at least 4 types: * Patients with NPD type A die in infancy. * Patients with NPD type B may live a comparatively long time, but many require supplemental oxygen because of lung involvement. * The life expectancies of patients with NPD types C and D are variable. Some patients die in childhood, whereas others who appear to be less drastically affected live into adulthood. It looks unlikely that you will find a celebrity with this disease.

Question: what kind of life style does the person with niemann-pick disease have?

Answer: Sounds very rare, but here is a link I found that may help! http://www.webmd.com/search/search_resul… Good Luck!

Question: what is niemann-pick disease?

Answer: Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. U might wanna look at this for more in-depth information http://www.ninds.nih.gov/disorders/niema…

Question: metabolic disease mcq? step 1? A one-year-old baby presents with increasing flaccid paralysis, lack of coordination, and hyporeflexia. Over the next several years, the child's condition deteriorates to a bedridden vegetative state. Funduscopic examination reveals optic atrophy. Extensive enzymological studies document a deficiency of arylsulfatase A (cerebroside sulfatase) in leukocytes. Which of the following is the most likely diagnosis? A. Gaucher disease B. Krabbe disease C. Metachromatic leukodystrophy D. Niemann-Pick disease E. Tay-Sachs disease

Answer: The correct answer is C. There are a number of hereditary sphingolipidoses that have devastating clinical courses. In practice, these diseases may have a variable course and may be difficult to specifically diagnose reliably on clinical grounds alone. The most useful clue to the specific diagnosis in this case is the comment about the deficient arylsulfatase A. Deficiency of this enzyme produces metachromatic leukodystrophy, characterized by accumulation of cerebroside sulfates (galactosyl sulfatide). The cerebroside sulfates accumulate as intra- and extracellular spherical masses that stain metachromatically (purplish rather than bluish) with acid cresyl violet, particularly in the nervous system.