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Like other genetic disorders, individuals inherit lysosomal storage diseases from their parents. Although each disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common biochemical characteristic – all lysosomal disorders originate from an abnormal accumulation of substances ...
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.
MPS, a type of lysosomal storage disease, is typed I through VII. Type I is known as Hurler syndrome and type I,S is known as Scheie syndrome , which has a milder prognosis compared to Hurler's. In this syndrome, glycosaminoglycans accumulate in the lysosomes and cause substantial disease in many different tissues of the body.
Substrate reduction therapy offers an approach to treatment of certain metabolic disorders, especially glycogen storage diseases and lysosomal storage disorders. In a storage disorder, a critical failure in a metabolic pathway prevents cellular breakdown and disposal of some large molecule. If residual breakdown through other pathways is ...
Pages in category "Lysosomal storage diseases" The following 9 pages are in this category, out of 9 total. This list may not reflect recent changes. *
The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. [1] [2] These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.
Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. [2] It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase.
Cambiogenplasmid (Neovasculgen): treatment for vascular endothelial growth factor peripheral artery disease; Ciltacabtagene autoleucel (Carvykti): treatment for multiple myeloma [6] Delandistrogene moxeparvovec (Elevidys): treatment for Duchenne muscular dystrophy [7] [8] Elivaldogene autotemcel (Skysona): treatment for cerebral ...