Niemann-Pick disease (NPC) is a rare advanced genetic cholesterol storage disorder. It is characterized by the body’s inability to transport cholesterol and other fatty substances (lipids) into the cells. Niemann-Pick disease leads to the irregular and harmful accumulation of fatty substances within various tissues of the body, including liver, spleen, and brain tissue. It is an autosomal recessive lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. The disease primarily affects children, with death occurring before or during adolescence but can also onset in later years of life as an adult. Niemann-Pick disease (NPC) is a relatively rare genetic disorder with NPD type A and B affecting 1 in 250,000, and NPD type C affecting 1 in 150,000 live births. However, certain populations may be affected more frequently by NPD. There are five types identified namely type A, type B, type C, type D, and type E. NPD types A and B, also called type I NPD, are caused by low levels of an enzyme called acid sphingomyelinase, which is essential to metabolize a lipid called sphingomyelin. Abnormalities in sphingomyelin metabolization can cause it to accumulate in cells, resulting in organ failure. NPD type A occurs in newborns and mainly affects the brain and liver. Babies with Niemann-Pick disease type A rarely survive past 18 months of age. NPD type B usually develops symptoms in the preteen years and leads to anomalies related to the liver, lung, and spleen. It can lead to frequent lung infections and damaged overall growth. Niemann-Pick disease (NPD) types C and D, also called type II NPD, leads to disruption in the movement of cholesterol between brain cells and can lead to dementia before adolescence. NPD types C and D may appear anytime between infancy and adulthood. NPD types C or D does not affect the spleen and liver much, but brain damage can be extensive. NPD type E occurs in adults and is extremely rare. Symptoms include swelling of the spleen and neurological problems.
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The general signs and symptoms associated with NPD include cerebellar ataxia, dysphagia (difficulty in swallowing), dysarthria (slurred speech), tremor, sleep inversion, loss of muscle tone or drop attacks, dystonia, drooping eyes, progressive hearing loss, bipolar disorder, microcephaly (abnormally small head), psychosis, progressive dementia, major and psychotic depression that can include hallucinations, delusions, and mutism.
Niemann-Pick disease can be diagnosed by appropriate laboratory tests after the physician determines based on symptoms. The various tests involved are identification of mutations in the NPC1 or NPC2 gene (gene sequencing) and evaluation of the function of the protein or the manifestation of accumulated byproducts (biochemical tests).
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There is no cure for type A NPD disease but researchers are constantly working on developing new possible treatments such as enzyme replacement and gene therapy. For Type D, there is no actual treatment; however, palliative care can be provided through some drugs to manage the nervous system symptoms of Type C disease. Increasing funding and research support from private as well as government organizations is expected to yield promising results in the pipeline of Niemann-Pick disease treatment over the next few years. Moreover, technological advancements in gene and enzyme replacement therapy are also anticipated to help in developing effective treatments for this debilitating condition. For instance, Sanofi Genzyme’s experimental enzyme-replacement therapy olipudase alfa granted the ‘Breakthrough Therapy’ status has entered the pivotal phase 2/3 trial for adult patients with acid sphingomyelinase deficiency.
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