Search results
Results from the WOW.Com Content Network
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 ...
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 most common side events include infections, infusion-related reactions, or gastrointestinal complaints (disease signs and symptoms in children). [5] [7] Historically referred to as Niemann-Pick disease types A (NPD A) and B (NPD B), acid sphingomyelinase deficiency is a genetic disorder. [5]
Chronic obstructive pulmonary disease (COPD) Smoking. Gastroesophageal reflux disease (GERD) Certain medications, like ACE inhibitors. Obstructive sleep apnea. Allergies. Productive vs ...
Melasma affects up to 33 percent of men and women. Read on to learn what causes the chronic skin condition and what you can do to keep it at bay. This Chronic Skin Condition Is A Common Cause Of ...
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]
AGS can cause a range of symptoms: mild ones like a rash or hives, or more severe ones such as difficulty breathing, and even anaphylaxis, says infectious disease expert Amesh A. Adalja, M.D ...