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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.
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 ...
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]
Fabry disease: α-galactosidase A: Glycolipids, particularly ceramide trihexoside, in brain, heart, kidney: Ischemic infarction in affected organs; Acroparesthesia; Angiokeratomas; hypohidrosis; X-linked [7] Between 1 in 40,000 to 1 in 120,000 live births for males [8] Enzyme replacement therapy (but expensive) Life expectancy among males of ...
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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
The Centers for Disease Control and Prevention confirmed on Thursday that life expectancy in 2022 rose to 77.5 years, which was up from 76.4 in 2021 and 77 in 2020. The CDC had released ...