alexa Niemann- Pick disease | Spain | PDF | PPT| Case Reports | Symptoms | Treatment

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Niemann- Pick Disease

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  • Niemann- Pick disease

    A biochemical disorder affecting a lipid (fat) called sphingomyelin, resulting usually in progressive enlargement of the liver and spleen (hepatosplenomegaly), "swollen glands" (lymphadenopathy), anemia and mental and physical deterioration. Niemann-Pick disease is hereditary and follows an autosomal recessive pattern.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.

  • Niemann- Pick disease

    Some forms of the disease can be diagnosed during ante natal screening. 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.Results of a survey shows the extrapolation of Prevalence Rate of Niemann-Pick disease type C2 in Spain is 268.Australian scientists investigating a rare neurological disorder known as childhood Alzheimer's believe their research could lead to a new treatment for some dementia sufferers.

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