Search results
Results from the WOW.Com Content Network
They use enzymes to break down macromolecules, which are recycled or disposed. [7] As of 2012, there are 50 lysosomal storage diseases, and more are still being discovered. [8] [7] These disorders arise because of genetic mutations that prevent the production of certain enzymes used in the lysosomes. [7]
Alglucosidase alfa, sold under the brand name Myozyme among others, is an enzyme replacement therapy (ERT) orphan drug for treatment of Pompe disease (Glycogen storage disease type II), a rare lysosomal storage disorder (LSD). [6] Chemically, the drug is an analog of the enzyme that is deficient in patients affected by Pompe disease, alpha ...
No cures for lysosomal storage diseases are known, and treatment is mostly symptomatic, although bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success. [ 11 ] [ 12 ] ERT can minimize symptoms and prevent permanent damage to the body. [ 13 ]
Examples of lysosomal storage disorders include Gaucher's disease, Tay–Sachs disease, Sandhoff disease, and Sanfilippo syndrome. In a metabolic or genetic pathway, enzymes catalyze a series of reactions. Each enzyme is regulated or mediated by one gene through its RNA and protein products. At each phase in the pathway, enzyme activity ...
Alpha-mannosidosis is a rare genetic lysosomal storage disorder. [2] The symptoms of the disorder vary, but often include mild to moderate intellectual disability, hearing loss, weakened immune system, distinctive facial features (e.g., a large head, prominent forehead, and protruding jaw), skeletal abnormalities, and muscle weakness. [ 2 ]
Enzyme replacement therapy (ERT) is a therapeutic alternative in a number of lysosomal storage diseases. [ 2 ] [ 8 ] The overall principle of ERT is that a recombinantly produced version of the deficient enzyme is introduced into the blood stream, from where it is internalised by the cells and reaches the lysosomes by mannose-6-phosphate ...
Cholesteryl Ester Storage Disease, presenting in pediatric and adult patients; Around 2010 both presentations came to be known as LAL-D, as both are due to a deficiency of the LAL enzyme. [3] In 2015 an enzyme replacement therapy, sebelipase alfa, was approved in the US and EU for the treatment of human LAL enzyme deficiency. [13]
[21] [22] [23] These were the first-ever enzyme replacement therapy (ERT) treatments for lysosomal diseases, and directly led to great advances in the development of enzyme replacement therapies for some of the other lysosomal diseases, by many different researchers who were inspired by Dr. Brady. (An international research and development ...