Acid sphingomyelinase (aSMases) is one of the enzymes from the family sphingomyelinase (SMase). It is an enzyme responsible for the development of phosphorylcholine and ceramide molecules through the breakdown of sphingomyelin. Acid sphingomyelinase are organized into acidic, neutral, and alkaline SMase based on the pH range in which their enzymatic action is optimal. The enzymatic activity can be affected by redox proteins, pH, cations, lipids, and several other proteins.
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Enzymatic activity of aSMases increases in phosphatidylinositol (PI) or lysobisphophatidic acid (LBPA) improved environments, and its activity reduces when phosphorylated derivatives of phosphatidylinositol are present in the surroundings. Acid sphingomyelinase are of two types: secretory sphingomyelinase (S-SMase) and lysosomal sphingomyelinase (L-SMase). Sphingomyelin phosphodiesterase 1 (SMPD1) is a gene coded for two aSMase enzymes from different groups of sphingomyelin these hydrolyse. Lysosomal sphingomyelinase (L-SMase) is present in the lysosomal compartment and secretory sphingomyelinase (S-SMase) is present at extracellular portion.
Acid sphingomyelinase deficiency is also called ASM-deficient Niemann-Pick disease, acid sphingomyelinase-deficient Niemann-Pick disease, ASM deficiency, or ASMD. It is an uncommon progressive genetic disorder caused by insufficiency of the enzyme acid sphingomyelinase, which is necessary to breakdown lipid (fatty) material known as sphingomyelin.
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Therefore, sphingomyelin and other elements gather in several tissues of the body. ASM deficiency is extremely flexible and the age of onset, severity, and definite symptoms of the disorder can differ dramatically from one person to another, occasionally even between members of the same family.
Acid sphingomyelinase deficiency disorder can be considered a spectrum of disease. At the severe side of the spectrum, it causes fatal neurodegenerative disorder that presents in the beginning. At the minor end of the spectrum, it affects people with no symptoms or only negligible neurological symptoms and survival into adulthood is common.
There is another form of disorder that exists as intermediate condition. ASM deficiency is caused by the mutation in SMPD1 gene and is inherited in an autosomal recessive manner. The global acid sphingomyelinase deficiency market is driven by increase in genetic mutations due to radiation and several other factors. Unavailability of medication and unawareness about the disorder are the major factors restraining the global market.
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The global acid sphingomyelinase deficiency market can be segmented based on product, end-user, and region. In terms of product, the market can be classified into Olipudase Alfa, OKL-1014, LJPC-0712, ML-SA1, OR-0005, and others. In terms of end-user, the global acid sphingomyelinase deficiency market can be divided into hospitals, clinics, and others.
In terms of region, the global acid sphingomyelinase deficiency market can be segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa. North America is expected to dominate the global market due to availability of advanced technology and treatment. Awareness among the people in the U.S. is also a major driver of the market in the region.
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Increase in government initiatives to reduce the incidence rate of the disorder and surge in health care expenditure are the major factors propelling the acid sphingomyelinase deficiency market is Asia Pacific. Lack of awareness about acid sphingomyelinase deficiency disorders and unavailability of advanced technology and treatment in underdeveloped countries such as Turkey, Cyprus, Syria, Lebanon, and Iraq are likely to propel the acid sphingomyelinase deficiency market in Middle East & Africa. Increase in demand for acid sphingomyelinase deficiency treatment offers significant opportunities for players in the market in these regions.
Top players in the global acid sphingomyelinase deficiency market are Orphazyme ApS, Okklo Life Sciences BV, Merck & Co., Inc., Genzyme Corporation, and La Jolla Pharmaceutical Company, among others.
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