Search results
Results from the WOW.Com Content Network
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.
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 ...
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 ...
In Types A and B, there is complete or partial deficiency of the lysosomal enzyme called acid sphingomyelinase. In Niemann–Pick type C, the protein product of the major mutated gene NPC1 is not an enzyme but appears to function as a transporter in the endosomal-lysosomal system, which moves large water-insoluble molecules through the cell .
Life expectancy may be plateauing. ... prevent up to 900,000 infants from having low birth weight and result in 1,500 fewer premature deaths a year from heart disease.
For premium support please call: 800-290-4726 more ways to reach us
Sphingomyelin can accumulate in a rare hereditary disease called Niemann–Pick disease, types A and B. 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.