Knowra Enzyme replacement therapy Enzyme replacement therapy Enzyme replacement therapy supplies a missing or deficient enzyme to restore a biochemical function, most often in an inherited metabolic disorder. Treatment may require repeated doses because the supplied enzyme is eventually cleared or degraded.
Lysosomal targeting : The delivery of molecules to lysosomes, the cell compartments that break down and recycle cellular materials. Many replacement enzymes must reach lysosomes to correct the storage defect.
Gaucher disease : An inherited disorder caused by deficient glucocerebrosidase activity and resulting accumulation of glucocerebroside. Its enzyme replacement treatment can improve blood and organ manifestations, but not most neurological disease.
Substrate reduction therapy : Treatment that reduces production of a substance that accumulates because of impaired metabolism. It lowers the material needing breakdown instead of supplying the deficient enzyme.
Infusion reaction : An adverse response that occurs during or shortly after administration of an infused treatment. Infusion reactions are a recurring safety concern in intravenous enzyme replacement.
Mannose-6-phosphate receptor : A cell-surface receptor that directs mannose-6-phosphate-tagged proteins into lysosomes. Therapeutic enzymes use this receptor to enter cells and reach lysosomes.
Fabry disease : An inherited disorder caused by deficient alpha-galactosidase A and accumulation of globotriaosylceramide. Replacement enzyme can reduce substrate storage, though access to some affected tissues remains limited.
Gene therapy : Treatment that introduces, removes, or alters genetic material to address disease. It aims to make cells produce a therapeutic protein rather than repeatedly infusing it.
Newborn screening : Testing of newborns for selected conditions that benefit from early detection and treatment. Earlier diagnosis can allow treatment before irreversible organ damage develops.
Pharmacokinetics : The study of how a drug is absorbed, distributed, metabolized, and eliminated by the body. Rapid clearance helps explain why enzyme replacement often needs repeated infusions.
Pompe disease : An inherited disorder caused by deficient acid alpha-glucosidase, leading to glycogen accumulation in cells. Treatment must deliver enzyme to muscle, where cellular uptake is a major challenge.
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