sphingolipidosis


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sphingolipidosis

 [sfing″go-lip″ĭ-do´sis]
a general designation applied to diseases characterized by abnormal storage of sphingolipids, such as gaucher's disease, niemann-pick disease, hurler's syndrome, and tay-sachs disease; all are associated with mental retardation and premature death.

sphin·go·lip·i·do·sis

(sfing'gō-lip'i-dō'sis),
Collective designation for various diseases characterized by abnormal sphingolipid metabolism (for example, gangliosidosis, Gaucher disease, Niemann-Pick disease).

sphingolipidosis

/sphin·go·lip·i·do·sis/ (-lip″ĭ-do´sis) any of various lysosomal storage diseases characterized by abnormal storage of sphingolipids.

sphingolipidosis

(sfĭng′gō-lĭp′ĭ-dō′sĭs)
n.
Any of various diseases, such as Gaucher disease or Niemann-Pick disease, caused by a deficiency of an enzyme that degrades sphingolipids.

sphin·go·lip·i·do·sis

, sphingolipodystrophy, pl. sphingolipidoses (sfinggō-lipi-dōsis, -ō-distrŏ-fē, -i-dōsēz)
Collective designation for a variety of diseases characterized by abnormal sphingolipid metabolism, e.g., gangliosidosis, Gaucher disease, Niemann-Pick disease.

sphin·go·lip·i·do·sis

, pl. sphingo lipidoses , sphingolipodystro phy (sfinggō-lipi-dōsis, -i-dōsēz, -ō-distrŏ-fē)
Collective designation for various diseases characterized by abnormal sphingolipid metabolism.

sphingolipidosis

pl. sphingolipidoses [Gr.] a general designation applied to diseases characterized by abnormal storage of sphingolipids, such as gangliosidosis, gaucher's disease, glucocerebroside, globoid cell leukodystrophy and sphingomyelinosis.
References in periodicals archive ?
In contrast to the enzymes administered in ERT, the drug used for SRT can cross the blood-brain barrier and reach target cells in the brain and thus could be used in the treatment of sphingolipidosis with involvement of the central nervous system (7).
TAY-SAGHS DISEASE is the infantile form of cerebral sphingolipidosis, a progressive disorder marked by degeneration of brain parenchymal cells and the maculas.
Key Terms for this Report: Metabolic, lysosomal storage, mucopolysaccharidosis, sphingolipidosis, glycogen storage, mucolipidosis, growth hormone, corporate venture capital, inlicensing, biologic, biosimilar, market exclusivity, premium pricing, enzyme replacement therapy, substrate reduction therapy.