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 Publications and Research on Niemann-Pick DiseaseSphingomyelin 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