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- GM2_gangliosidoses abstract "The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names.Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids. When beta-hexosaminidase is no longer functioning properly, the lipids accumulate in the nervous tissue of the brain and cause problems. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal.All three disorders are rare in the general population. Tay-Sachs disease has become famous as a public health model because an enzyme assay test for TSD was discovered and developed in the late 1960s and early 1970s, providing one of the first "mass screening" tools in medical genetics. It became a research and public health model for understanding and preventing all autosomal genetic disorders.Tay-Sachs disease, AB variant, and Sandhoff disease might easily have been defined together as a single disease, because the three disorders are associated with failure of the same metabolic pathway and have the same outcome. Classification and naming for many genetic disorders reflects history, because most diseases were first observed and classified based on biochemistry and pathophysiology before genetic diagnosis was available. However, the three GM2 gangliosidoses were discovered and named separately. Each represents a distinct molecular point of failure in a subunit that is required for activation of the enzyme.".
- GM2_gangliosidoses diseasesdb "12916".
- GM2_gangliosidoses icd10 "E75.0".
- GM2_gangliosidoses icd9 "330.1".
- GM2_gangliosidoses meshId "D020143".
- GM2_gangliosidoses omim "272800".
- GM2_gangliosidoses wikiPageExternalLink NBK1218.
- GM2_gangliosidoses wikiPageID "5788187".
- GM2_gangliosidoses wikiPageRevisionID "604386330".
- GM2_gangliosidoses diseasesdb "12916".
- GM2_gangliosidoses diseasesdbMult ",".
- GM2_gangliosidoses genereviewsname "Hexosaminidase A Deficiency".
- GM2_gangliosidoses genereviewsnbk "NBK1218".
- GM2_gangliosidoses hasPhotoCollection GM2_gangliosidoses.
- GM2_gangliosidoses icd "330.1".
- GM2_gangliosidoses icd "E75.0".
- GM2_gangliosidoses meshid "D020143".
- GM2_gangliosidoses name "GM2 gangliosidoses".
- GM2_gangliosidoses omim "272800".
- GM2_gangliosidoses omimMult ",".
- GM2_gangliosidoses wordnet_type synset-disease-noun-1.
- GM2_gangliosidoses subject Category:Ashkenazi_Jews_topics.
- GM2_gangliosidoses subject Category:Autosomal_recessive_disorders.
- GM2_gangliosidoses subject Category:Lipid_storage_disorders.
- GM2_gangliosidoses subject Category:Rare_diseases.
- GM2_gangliosidoses type Disease.
- GM2_gangliosidoses type AilmentCondition.
- GM2_gangliosidoses type Situation.
- GM2_gangliosidoses comment "The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names.Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids.".
- GM2_gangliosidoses label "GM2 gangliosidoses".
- GM2_gangliosidoses sameAs m.0f4ln6.
- GM2_gangliosidoses sameAs Q5513691.
- GM2_gangliosidoses sameAs Q5513691.
- GM2_gangliosidoses wasDerivedFrom GM2_gangliosidoses?oldid=604386330.
- GM2_gangliosidoses isPrimaryTopicOf GM2_gangliosidoses.
- GM2_gangliosidoses name "GM2 gangliosidoses".