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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 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.
Acid sphingomyelinase deficiency is seriously debilitating and life-threatening since the build-up of fatty substances can cause brain damage and swelling of organs such as liver and spleen. [ 5 ] Xenpozyme is the first acid sphingomyelinase deficiency-specific treatment. [ 5 ]
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.
Functional inhibitors of acid sphingomyelinase, or FIASMA, [1] is a large group of pharmacological compounds inhibiting the enzyme acid sphingomyelinase (ASM, EC 3.1.4.12). ). This enzyme is mainly located within the lysosome, where it cleaves sphingomyelin to ceramide and sphingosine, the latter of which is then phosphorylated to sphingosine-1-phosp
It is a genetically-inherited disease caused by a deficiency in the lysosomal enzyme acid sphingomyelinase, which causes the accumulation of sphingomyelin in spleen, liver, lungs, bone marrow, and brain, causing irreversible neurological damage. Of the two types involving sphingomyelinase, type A occurs in infants.
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]
Sphingomyelin phosphodiesterase 1 (SMPD1), also known as acid sphingomyelinase (ASM), is an enzyme that in humans is encoded by the SMPD1 gene. Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family. [5]