Niemann-P ick disease NPD is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases. They are divided into two groups of two based on the underlying metabolic deficiency:. Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Updating… Please wait.
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Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat cholesterol and lipids within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs.
Niemann-Pick can occur at any age but mainly affects children. The disease has no known cure and is sometimes fatal.
Treatment is focused on helping people live with their symptoms. Niemann-Pick care at Mayo Clinic. The signs and symptoms you experience depend on the type and severity of your condition. Some infants with type A will show signs and symptoms within the first few months of life.
Those with type B may not show signs for years and have a better chance of surviving to adulthood. People with type C may not experience any symptoms until adulthood. Niemann-Pick is caused by mutations in specific genes related to how the body metabolizes fat cholesterol and lipids.
The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected.
Types A and B are caused by a missing or malfunctioning enzyme called sphingomyelinase. This affects the body's ability to metabolize fat cholesterol and lipids , resulting in a buildup of fat in cells. This causes cell dysfunction and, over time, cell death. Type A occurs mainly in infants, who show severe, progressive brain disease. There is no cure, so most children do not live beyond their first few years.
Type B usually occurs later in childhood and is not associated with primary brain disease. Most people affected with type B survive into adulthood. Niemann-Pick type C is a rare inherited disease. The genetic mutations of this type cause cholesterol and other fats to accumulate in the liver, spleen or lungs.
The brain is eventually affected too. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.
This content does not have an English version. This content does not have an Arabic version. Request an appointment. Overview Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat cholesterol and lipids within cells.
Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Patterson MC. Overview of Niemann-Pick disease. Accessed Oct. Patterson MC, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study. Orphanet Journal of Rare Diseases. Niemann-Pick disease. Merck Manual Professional Version.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
Filipin staining test was made from cultured fibroblasts from skin biopsies from 73 patients clinically candidates of developing the neurodegenerative disease autosomal recessive Niemann Pick C, referred by the neurology and genetics in the country. Qualitative analysis by perinuclear fluorescence intensity, the positive biochemical diagnosis was identified in 23 patients. Su incidencia es de nacidos vivos. Medios de cultivo y suplementos.
Enfermedad de Niemann-Pick tipo C. Revista Mexicana de Neurociencia Septiembre-Octubre. Abel EL. Jewish Genetic Disorders. A Layman's Guide.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea. Other search option s Alphabetical list.