Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Lysosomal_storage_disease> ?p ?o }
- Lysosomal_storage_disease abstract "Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective, because of a mutation, the large molecules accumulate within the cell, eventually killing it.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 so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100,000; however, as a group the incidence is about 1:5,000 - 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann-Pick disease, type C, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders are usually triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome does not function normally, excess products destined for breakdown and recycling are stored in the cell.Like other genetic diseases, 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 inside the lysosome.Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth. Many other children die of this disease following years of suffering from various symptoms of their particular disorder.".
- Lysosomal_storage_disease icd10 "E75-E77".
- Lysosomal_storage_disease meshId "D016464".
- Lysosomal_storage_disease thumbnail Gaucher_disease_-_very_high_mag.jpg?width=300.
- Lysosomal_storage_disease wikiPageExternalLink www.MLDfoundation.org.
- Lysosomal_storage_disease wikiPageExternalLink www.globalgenesproject.org.
- Lysosomal_storage_disease wikiPageExternalLink www.hideandseek.org.
- Lysosomal_storage_disease wikiPageID "580526".
- Lysosomal_storage_disease wikiPageLength "13177".
- Lysosomal_storage_disease wikiPageOutDegree "158".
- Lysosomal_storage_disease wikiPageRevisionID "681958427".
- Lysosomal_storage_disease wikiPageWikiLink Activator_Deficiency.
- Lysosomal_storage_disease wikiPageWikiLink Alpha-galactosidase.
- Lysosomal_storage_disease wikiPageWikiLink Alpha-mannosidosis.
- Lysosomal_storage_disease wikiPageWikiLink Aspartylglucosaminuria.
- Lysosomal_storage_disease wikiPageWikiLink Autosomal_recessive.
- Lysosomal_storage_disease wikiPageWikiLink Batten_disease.
- Lysosomal_storage_disease wikiPageWikiLink Clanachan_Aerodrome.
- Lysosomal_storage_disease wikiPageWikiLink Beta-galactosidase.
- Lysosomal_storage_disease wikiPageWikiLink Beta-mannosidosis.
- Lysosomal_storage_disease wikiPageWikiLink Blindness.
- Lysosomal_storage_disease wikiPageWikiLink Bone_marrow_transplantation.
- Lysosomal_storage_disease wikiPageWikiLink CLN3.
- Lysosomal_storage_disease wikiPageWikiLink CLN4.
- Lysosomal_storage_disease wikiPageWikiLink CLN5.
- Lysosomal_storage_disease wikiPageWikiLink CLN6.
- Lysosomal_storage_disease wikiPageWikiLink CLN7.
- Lysosomal_storage_disease wikiPageWikiLink CLN8.
- Lysosomal_storage_disease wikiPageWikiLink CTSD.
- Lysosomal_storage_disease wikiPageWikiLink Cardiac.
- Lysosomal_storage_disease wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Lysosomal_storage_disease wikiPageWikiLink Category:Inborn_errors_of_metabolism.
- Lysosomal_storage_disease wikiPageWikiLink Category:Lysosomal_storage_diseases.
- Lysosomal_storage_disease wikiPageWikiLink Category:Neurological_disorders_in_children.
- Lysosomal_storage_disease wikiPageWikiLink Category:X-linked_recessive_disorders.
- Lysosomal_storage_disease wikiPageWikiLink Cathepsin_A.
- Lysosomal_storage_disease wikiPageWikiLink Cathepsin_D.
- Lysosomal_storage_disease wikiPageWikiLink Cell_biology.
- Lysosomal_storage_disease wikiPageWikiLink Ceramidase.
- Lysosomal_storage_disease wikiPageWikiLink Chaperone_therapy.
- Lysosomal_storage_disease wikiPageWikiLink Cholesteryl_ester_storage_disease.
- Lysosomal_storage_disease wikiPageWikiLink Cord_blood.
- Lysosomal_storage_disease wikiPageWikiLink Cystinosis.
- Lysosomal_storage_disease wikiPageWikiLink Cytological.
- Lysosomal_storage_disease wikiPageWikiLink Cytoplasm.
- Lysosomal_storage_disease wikiPageWikiLink Danon_disease.
- Lysosomal_storage_disease wikiPageWikiLink Deafness.
- Lysosomal_storage_disease wikiPageWikiLink Dementia.
- Lysosomal_storage_disease wikiPageWikiLink Dominance_(genetics).
- Lysosomal_storage_disease wikiPageWikiLink Enzyme.
- Lysosomal_storage_disease wikiPageWikiLink Enzyme_replacement_therapy.
- Lysosomal_storage_disease wikiPageWikiLink Enzymes.
- Lysosomal_storage_disease wikiPageWikiLink Epididymal_secretory_protein_E1.
- Lysosomal_storage_disease wikiPageWikiLink Epileptic_seizure.
- Lysosomal_storage_disease wikiPageWikiLink Fabry_disease.
- Lysosomal_storage_disease wikiPageWikiLink Farber_disease.
- Lysosomal_storage_disease wikiPageWikiLink Fucosidosis.
- Lysosomal_storage_disease wikiPageWikiLink GM1_gangliosidoses.
- Lysosomal_storage_disease wikiPageWikiLink GM1_gangliosidosis.
- Lysosomal_storage_disease wikiPageWikiLink GM2-gangliosidosis,_AB_variant.
- Lysosomal_storage_disease wikiPageWikiLink GM2A.
- Lysosomal_storage_disease wikiPageWikiLink GM2_Gangliosidosis.
- Lysosomal_storage_disease wikiPageWikiLink GM2_gangliosidoses.
- Lysosomal_storage_disease wikiPageWikiLink Galactosialidosis.
- Lysosomal_storage_disease wikiPageWikiLink Ganglioside.
- Lysosomal_storage_disease wikiPageWikiLink Ganglioside_GM2_activator_protein.
- Lysosomal_storage_disease wikiPageWikiLink Gangliosides.
- Lysosomal_storage_disease wikiPageWikiLink Gangliosidoses.
- Lysosomal_storage_disease wikiPageWikiLink Gangliosidosis.
- Lysosomal_storage_disease wikiPageWikiLink Gaucher_Disease.
- Lysosomal_storage_disease wikiPageWikiLink Gaucher_disease.
- Lysosomal_storage_disease wikiPageWikiLink Gauchers_disease.
- Lysosomal_storage_disease wikiPageWikiLink Gene_therapy.
- Lysosomal_storage_disease wikiPageWikiLink Genetic_diseases.
- Lysosomal_storage_disease wikiPageWikiLink Genetic_disorder.
- Lysosomal_storage_disease wikiPageWikiLink Glucocerebroside.
- Lysosomal_storage_disease wikiPageWikiLink Glycogen_storage_disease_type_II.
- Lysosomal_storage_disease wikiPageWikiLink Glycolipid.
- Lysosomal_storage_disease wikiPageWikiLink Glycolipids.
- Lysosomal_storage_disease wikiPageWikiLink Glycoprotein.
- Lysosomal_storage_disease wikiPageWikiLink Glycoproteinosis.
- Lysosomal_storage_disease wikiPageWikiLink Glycoproteins.
- Lysosomal_storage_disease wikiPageWikiLink Glycosaminoglycan.
- Lysosomal_storage_disease wikiPageWikiLink H&E_stain.
- Lysosomal_storage_disease wikiPageWikiLink Hearing_loss.
- Lysosomal_storage_disease wikiPageWikiLink Heart.
- Lysosomal_storage_disease wikiPageWikiLink Hematopoietic_stem_cell_transplantation.
- Lysosomal_storage_disease wikiPageWikiLink Hepatomegaly.
- Lysosomal_storage_disease wikiPageWikiLink Hunter_syndrome.
- Lysosomal_storage_disease wikiPageWikiLink Hurler-Scheie_Syndrome.
- Lysosomal_storage_disease wikiPageWikiLink Hurler_Syndrome.
- Lysosomal_storage_disease wikiPageWikiLink Hurler_disease.
- Lysosomal_storage_disease wikiPageWikiLink Hurler_syndrome.
- Lysosomal_storage_disease wikiPageWikiLink Hurler–Scheie_syndrome.
- Lysosomal_storage_disease wikiPageWikiLink Hyaluronidase.
- Lysosomal_storage_disease wikiPageWikiLink I-cell_disease.
- Lysosomal_storage_disease wikiPageWikiLink ICD.
- Lysosomal_storage_disease wikiPageWikiLink Infantile_Free_Sialic_Acid_Storage_Disease.
- Lysosomal_storage_disease wikiPageWikiLink Infantile_free_sialic_acid_storage_disease.
- Lysosomal_storage_disease wikiPageWikiLink Infantile_neuronal_ceroid_lipofuscinosis.