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Niemann-pick disease - Coggle Diagram
Niemann-pick disease
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Diagnostic Studies
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Biopsy of blood or skin cells evaluated for levels of sphingomyelinase enzyme also the movement and storage of cholesterol by skin cells is measured.
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Prenatal test is done at high risk pregnancy if there is a known family history and all so futile ultrasound in molecular testing are performed.
Pathophysiology
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This causes a buildup of harmful amounts of lipids in various organs such as liver, spleen, brain and bone marrow.
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Definition
It is a rare inherited disease that affects the body's ability to mobilize fats(cholesterol and lipid) within cells.