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Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the ...
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. *
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.
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), [1] [2] is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins.
Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder.Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations.
Cystinosis was the first documented genetic disease belonging to the group of lysosomal storage disease disorders. [4] Cystinosis is caused by mutations in the CTNS gene that codes for cystinosin, the lysosomal membrane-specific transporter for cystine. Intracellular metabolism of cystine, as it happens with all amino acids, requires its ...
The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, [2] [3] with the United States and Northern European populations having slightly higher frequency with an occurrence of ...
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 insufficient to prevent harmful accumulation, the molecule accumulates in the cell and eventually interferes with normal biological processes. Examples of lysosomal ...