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Once inside the body the vector introduces the therapeutic gene into host cells, and the protein encoded by the newly inserted gene is then produced by the body's own cells. [11] This type of therapy can correct for the missing protein/enzyme in patients with lysosomal storage diseases. [1] Hematopoietic stem cell (HSC) transplantation is ...
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [1] [2] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
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 ...
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 ...
The M6P-tagged lysosomal enzymes are shipped to the late endosomes via vesicular transport. [1] Enzyme replacement therapy (ERT) for several lysosomal storage diseases relies on this pathway to efficiently direct synthetic enzymes to the lysosome where each can metabolize its particular substrate. [2]
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]
Acid alpha-glucosidase, also called acid maltase, [5] is an enzyme that helps to break down glycogen in the lysosome. It is functionally similar to glycogen debranching enzyme, but is on a different chromosome, processed differently by the cell and is located in the lysosome rather than the cytosol. [6] In humans, it is encoded by the GAA gene. [5]