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Topic: Niemann Pick disease

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	National Niemann-Pick Disease Foundation
		Niemann-Pick Disease is one of a group of lysosome storage diseases that affect metabolism and that are caused by genetic mutations.
		NPA is a severe neurologic disease that leads to death by 2 to 4 years of age.
		Pick's Disease is sometimes confused with Niemann-Pick Disease but it is a different disease.
	www.nnpdf.org /npdisease_01.html (643 words)

	Niemann-Pick Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.
		Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen.
		The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Niemann-Pick disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.
	www.ninds.nih.gov /disorders/niemann/niemann.htm (566 words)

	Niemann-Pick Disease - Niemann-Pick Disease Symptom, Cause, Treatment
		Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.
		To add to their grief, the onset of disease symptoms is often delayed for many years and other children, born previously or subsequently, may also have inherited the disease.
		Bone marrow transplantation in a patient with NPD type B was successful in reducing spleen and liver volumes, the sphingomyelin content of the liver, the number of Niemann-Pick cells in the marrow, and infiltration of the lungs detected radiologically.
	www.depression-treatment-help.com /mental-disorders/niemann-pick-disease.htm (485 words)

	NIEMANN PICK DISEASE— A CASE REPORT (Site not responding. Last check: )
		Niemann Pick Disease type A is usually fatal in childhood and patients may have prolonged jaundice at birth followed by hepatosplenomegaly, lymphadenopathy, psychomotor retardation and pancytopenia over a period of time as was seen in our patient.
		Niemann Pick Disease type B leads to a variable clinical presentation.
		Niemann Pick type A disease is usually fatal in childhood whereas prognosis for type B disease is variable.
	www.pediatriconcall.com /fordoctor/casereports/niemann_pick_disease.asp (502 words)

	Niemann-Pick Information on Healthline
		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.
		Pick's disease is sometimes confused with Niemann-Pick but it is a different disease.
		The underlying reason for this dramatic difference in the two forms of the disease is not really understood, and, at present, it is not possible to accurately predict the severity of the disease by enzyme testing.
	www.healthline.com /adamcontent/niemann-pick (1301 words)

	Center for Jewish Genetic Diseases - Department of Human Genetics - Mount Sinai School of Medicine
		With adolescence and adulthood the major symptoms are associated with pulmonary disease, due to involvement of the lungs.
		The specific biochemical defect in both Types A and B Niemann-Pick disease is the deficiency of an enzyme, sphingomyelinase, which normally degrades a fatty substance known as sphingomyelin.
		The diagnosis of Type A or B disease can be made either by demonstration of the enzyme defect, or by identification of the specific mutation(s) in the sphingomyelinase gene.
	www.mssm.edu /jewish_genetics/diseases/niemann-pick.shtml (456 words)

	Niemann Pick Disease
		Niemann-Pick disease type D is limited to a specific population from Nova Scotia, Canada and their descendants, of whom one in four to one in 10 potentially are carriers for the disease.
		Tay-Sachs disease is inherited as an autosomal recessive trait.
		Sandhoff disease is inherited as an autosomal recessive trait.
	hw.healthdialog.com /kbase/nord/nord93.htm (3364 words)

	Niemann Pick Disease -
		Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.
		Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to thrive, and progressive deterioration of the nervous system.
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
	www.medicalgeo.com /Med-Diseases-My---O/Niemann-Pick-Disease.html (686 words)

	UCSF School of Medicine - UCSF-Stanford Lysosomal Disease Center
		There are at least four types of NPD, called types A, B, C, and D. Types A and B NPD are caused by an absence or shortage of the enzyme acid sphingomyelinase ("ah-sid s-fing-o-my-lin-aze") or ASM, which normally breaks down sphingomyelin ("s-fing-o-my-eh-lin"), a component of cell membranes.
		These symptoms include: enlargement of the liver and spleen, lung disease and susceptibility to lung infections, and occasionally a cherry red spot on the macula (an abnormal red coloration in the center of the retina, the layer of the eye which receives images and transmits them to the brain).
		Type C NPD can be caused by mutations in one of two different genes, called NPC1 and HE1, which are involved in the movement of cholesterol into and out of the body's cells.
	www.medschool.ucsf.edu /lysosomal/niemann (461 words)

	Niemann-Pick Disease
		In 1914 Albert Niemann, A German pediatrician, described a young child with an enlarged liver and spleen, enlarged lymph glands, swelling and a darkening of the skin of the face.
		The disease progresses with symptoms of increased clumsiness and lack of coordination, and eventually seizures, and a gradual failure of physical and mental function.
		Persons with Type A and Type B Niemann-Pick Disease are missing the enzyme sphingomyelinase which is necessary to metabolize and break down sphingomyelin, a component of cell membranes.
	www.ntsad.org /S02/S02Niemann-Pick.htm (878 words)

	eMedicine - Niemann-Pick Disease : Article by Robert A Schwartz, MD, MPH (Site not responding. Last check: )
		Niemann and Pick, and later Crocker and Farber, defined NPD on the basis of its clinical and pathologic features in the beginning of the 20th century.
		In patients with NPD type A, the infantile form, sphingomyelinase activity is 0.7% of that of healthy individuals, whereas in patients with adult-onset neuronopathic or nonneuronopathic disease, the activity is 0-19% of that of healthy individuals.
		NPD type C is initially diagnosed by obtaining a skin biopsy sample, growing the fibroblasts in the laboratory, and then studying their ability to transport and store cholesterol.
	www.emedicine.com /DERM/topic699.htm (4916 words)

	Niemann-Pick Disease
		Niemann-Pick Disease ("Niemann-Pick") is actually a term for a group of diseases which affect metabolism and whihc are caused by specific genetic mutations.
		The three most commonly recognized forms of the disease are Type A, B and C. Types A and B Niemann-Pick are both caused by the deficiency of a specific enzyme activity, acid sphingomyelinase (ASM).
		Pick's Disease is sometimes confused with Niemann-Pick but it is a differnt disease.
	users.eastlink.ca /~bellneck/bourque/Niemann.html (767 words)

	Niemann-Pick disease - Genetics Home Reference
		Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to thrive, and progressive deterioration of the nervous system.
		Niemann-Pick disease, type B occurs in all populations; however, the incidence is unknown.
		Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.
	ghr.nlm.nih.gov /condition=niemannpickdisease (891 words)

	Neimann-Pick Disease - Information and Support Resources
		Though both Type A and B are caused by deficiency of ASM, Type A, which is most prevalent, is a severe neurological disease that generally leads to death between two and three years of age.
		However, it is the A and B types of Neimann-Pick Disease that have a higher incidence in Ashkenazi Jews, compared to the general population.
		This test is effective in identifying persons actually victims of Type A and B but is not reliable in detecting persons who are carriers of Neimann-Pick.
	www.mazornet.com /genetics/neiman-pick.asp (684 words)

	eMedicine - Niemann-Pick Disease : Article by Margaret McGovern, MD, PhD (Site not responding. Last check: )
		The original description of NPD referred to what is currently termed NPD type A, which is a fatal disorder of infancy characterized by failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative course that leads to death by age 2-3 years.
		NPD type A: The clinical presentation and course of type A is relatively uniform and is characterized by normal appearance at birth.
		Bone marrow transplantation in a patient with NPD type B was successful in reducing spleen and liver volumes, the sphingomyelin content of the liver, the number of Niemann-Pick cells in the marrow, and infiltration of the lungs detected radiologically.
	www.emedicine.com /ped/topic2889.htm (2022 words)

	Niemann Pick Disease Group (UK) (Site not responding. Last check: )
		The Niemann-Pick Diseases, in common with many other inherited diseases of the metabolism, are a source of great suffering and distress to individuals unfortunate to have inherited them and to their families.
		To add to their grief, the onset of disease symptoms is often delayed for many years and other children, born previously or subsequently, may also have inherited the disease.
		The purpose of this website is to provide information about Niemann-Pick Diseases to affected families to assist them in understanding the cause of the disease and, hopefully, to relieve their distress and confusion in some small way.
	www.niemannpick.org.uk (227 words)

	Niemann-Pick disease - Wikipedia, the free encyclopedia
		There are four variants of Niemann-Pick disease based on the genetic cause and the symptoms exhibited by the patient.
		The molecular basis for this disease is extremely complex due to the role that endosome formation has on affected patients.
		An enzyme replacement therapy for NPD Type B is in phase 4, but is not yet in clinical trials.
	en.wikipedia.org /wiki/Niemann-Pick_disease (967 words)

	Einstein - Niemann-Pick Disease
		In Niemann-Pick disease, harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow and sometimes in the brain.
		There are two types of Niemann-Pick disease, type A and type B. Type A is more common in the Ashkenazi Jewish population, with an estimated one in 90 carrier frequency.
		The first signs of the disease appear at about three to five months of age.
	www.einstein.edu /yourhealth/genetic/jewishgenetic/article8416.html (248 words)

	Niemann-Pick disease
		Niemann-Pick disease is a rare inherited degenerative nerve disease caused by the deficiency of an enzyme (sphingomyelinase) that leads to the buildup of a fatty substance (sphingomyelin) in cells in the liver, spleen, lymph nodes, and bone marrow.
		Niemann-Pick disease is most commonly seen in families of Eastern European (Ashkenazi) Jewish heritage.
		Type B disease is a milder form that does not affect the brain.
	www.webmd.com /hw/health_guide_atoz/stn166088.asp (224 words)

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