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Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity.These are inherited metabolic disorders in which sphingomyelin accumulates in lysosomes in cells of many organs.
The most common side events include infections, infusion-related reactions, or gastrointestinal complaints (disease signs and symptoms in children). [5] [7] Historically referred to as Niemann-Pick disease types A (NPD A) and B (NPD B), acid sphingomyelinase deficiency is a genetic disorder. [5]
The lysosomal storage disorders Niemann-Pick disease, SMPD1-associated (type A and B) are characterized by deficiencies in acid sphingomyelinase. [3] Diagnosis is confirmed by an aSMase activity less than 10% in the peripheral blood lymphocytes. [citation needed] Caused by a mutation in the SMPD1 gene, it is found in 1:250,000 in the population.
In dogs with a liver shunt, some of this blood bypasses the liver, preventing it from filtering toxins and nutrients. This can cause toxins and waste to build up in the body, which can lead to ...
Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, [1] also relating to sphingolipid metabolism.
The dog then causes further trauma to the skin by itching and rubbing at the area, leading to a secondary bacterial infection." Acute moist dermatitis: Symptoms A patch of moist, inflamed skin ...
Insufficient activity of the enzyme acid sphingomyelinase causes the buildup of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. This enzyme is found in special compartments within cells called lysosomes (compartments that digest and recycle materials in the cell), and is required to metabolize the lipid ...
Symptoms include liver and kidney failure and vasculitis. [10] Lyme disease* is a disease caused by Borrelia burgdorferi, a spirochaete, and spread by ticks of the genus Ixodes. Symptoms in dogs include acute arthritis, anorexia and lethargy. There is no rash as is typically seen in humans. [11]
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