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For this reason, many symptoms of lysosomal storage diseases remain untreated by ERT, especially neurological symptoms. [10] Additionally, the efficacy of ERT is often reduced due to an unwanted immune response against the enzyme, which prevents metabolic function.
Cerliponase alfa, marketed as Brineura, is an enzyme replacement treatment for Batten disease, a neurodegenerative lysosomal storage disease.Specifically, Cerliponase alfa is meant to slow loss of motor function in symptomatic children over three years old with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2).
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 ]
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]
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 ]
This drug works as an enzyme replacement therapy which allows the body to begin breaking down triglycerides and cholesteryl esters into their simpler lipid components once again. [8] Some other methods of treating lysosomal acid lipase deficiency and Cholesteryl ester storage disease include; a low-fat diet, the prescription of statins and ...
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 ...
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 ...