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Niemann-Pick Disease
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Niemann-Pick Disease
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Niemann-Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). Niemann-Pick disease does not have a complete cure. Niemann-Pick disease refers to a group of inherited metabolic disorders in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. It is included in a family of lysosomal storage diseases. The disease has several forms- Type A, Type B and Type C (earlier classification included types A, B, C, and D)  Niemann-Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). This enzyme is required for breaking down sphingomyelin, which is a product of fat metabolism. The lack of ASM leads to the collection of sphingomyelin or cholesterol in the body. Niemann-Pick disease Type C arises due to a defect in cholesterol and glycolipid transport mechanisms. According to another classification, Niemann-Pick disease is classified into two types: Niemann-Pick disease, SMPD1-associated (which includes Type A and Type B disease), and Niemann-Pick disease, Type C.  Some forms of the disease can be diagnosed during ante natal screening (techniques like chorionic villus sampling or amniocentesis).After birth, the diagnosis is made by a liver biopsy where liver tissue specimens are obtained and studied under a microscope. Niemann-Pick disease does not have a complete cure, though treatments that halt the disease progression are being studied. Affected children tend to die of infection or progressive dysfunction of the central nervous system. |
Latest Publication and Research on Niemann-Pick Disease - Updated on 04/18/2013.
Sphingomyelin Lipidosis (Niemann-Pick Disease) in a Juvenile Raccoon (Procyon lotor). - Published by PubMed
Acid sphingomyelinase. - Published by PubMed
Sphingomyelin in high-density lipoproteins: structural role and biological function. - Published by PubMed
Aberrant promoter methylation profile of niemann-pick type c1 gene in cardiovascular disease. - Published by PubMed
Synthesis, Characterization, and Evaluation of Pluronic-based ß-Cyclodextrin Polyrotaxanes for Mobilization of Accumulated Cholesterol from Niemann-Pick Type C Fibroblasts. - Published by PubMed
Sphingomyelin Lipidosis (Niemann-Pick Disease) in a Juvenile Raccoon (Procyon lotor). - Published by PubMed
Acid sphingomyelinase. - Published by PubMed
Sphingomyelin in high-density lipoproteins: structural role and biological function. - Published by PubMed
Aberrant promoter methylation profile of niemann-pick type c1 gene in cardiovascular disease. - Published by PubMed
Synthesis, Characterization, and Evaluation of Pluronic-based ß-Cyclodextrin Polyrotaxanes for Mobilization of Accumulated Cholesterol from Niemann-Pick Type C Fibroblasts. - Published by PubMed
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