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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.
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.
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 ]
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.
Neutral sphingomyelinase (N-SMase) activity was first described in fibroblasts from patients with Niemann-Pick disease – a lysosomal storage disease characterized by deficiencies in acid SMase. [3] Subsequent study found that this enzyme was the product of a distinct gene, had an optimum pH of 7.4, was dependent on Mg 2+ ions for activity ...
Sphingomyelin phosphodiesterase D (EC 3.1.4.41, sphingomyelinase D) is an enzyme of the sphingomyelin phosphodiesterase family with systematic name sphingomyelin ceramide-phosphohydrolase. [ 2 ] [ 3 ] These enzymes catalyse the hydrolysis of sphingomyelin , resulting in the formation of ceramide 1-phosphate and choline:
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]