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About: Galactosialidosis     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:WikicatAutosomalRecessiveDisordersyago:WikicatMetabolicDisordersyago:Abstraction100002137yago:Attribute100024264yago:Condition113920835yago:Disease114070360yago:Disorder114052403yago:GeneticDisease114151139yago:IllHealth114052046yago:Illness114061805yago:MetabolicDisorder114084502yago:PathologicalState114051917yago:PhysicalCondition114034177yago:WikicatGeneticDisordersyago:WikicatGlycoproteinMetabolismDisordersdiseaseyago:State100024720umbel-rc:AilmentCondition New Facet based on Instances of this Class

Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase. This deficiency inhibits the lysosomes of cells from functioning properly, resulting in the accumulation of toxic matter within the cell. Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment, and intellectual disability. Because galactosialidosis involves the lysosomes of all cells, it can affect various areas of the body, including the brain, eyes, bones, and muscles. Depending on the patient's age at the onset of symptoms, the disease consists of three subtypes: early infantile, la