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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.
Acid sphingomyelinase is one of the enzymes that make up the sphingomyelinase (SMase) family, responsible for catalyzing the breakdown of sphingomyelin to ceramide and phosphorylcholine. [1] They are organized into alkaline, neutral, and acidic SMase depending on the pH in which their enzymatic activity is optimal.
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.
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.
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 ]
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]
By including zinc in the diet it will not only aid in the development of collagen and wound healing, but it will also prevent the skin from becoming dry and flaky. [27] Copper is involved in multiple enzymatic pathways. [28] In dogs, a deficiency in copper results in incomplete keratinization leading to dry skin and hypopigmentation. [28]