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Statements

Subject Item
dbr:Galactosialidosis
rdf:type
yago:IllHealth114052046 yago:Illness114061805 yago:Disorder114052403 yago:WikicatGlycoproteinMetabolismDisorders yago:MetabolicDisorder114084502 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders yago:Abstraction100002137 yago:WikicatAutosomalRecessiveDisorders wikidata:Q12136 yago:WikicatMetabolicDisorders yago:GeneticDisease114151139 yago:Condition113920835 yago:Attribute100024264 yago:State100024720 owl:Thing dbo:Disease yago:PathologicalState114051917 umbel-rc:AilmentCondition yago:Disease114070360
rdfs:label
Galaktosialidose Galactosialidosis Galattosialidasi Galactosialidosis
rdfs:comment
La galattosialidasi o anche sindrome di Goldberg o deficit di galattosidasi β-neuraminidasi è una rara malattia ereditaria di tipo autosomico recessivo facente parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale, del sottogruppo delle . La malattia è causata dalla mutazione del gene che codifica la , una proteina protettiva. 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 Galaktosialidose (auch Goldberg-Syndrom oder Neuraminidase-β-Galaktosidase-Mangel) ist eine sehr seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen. La galactosialidosis (GSL) es una enfermedad congénita y hereditaria que pertenece al grupo de las enfermedades por depósito lisosomal. Está provocada por deficiencia de las enzimas neuraminidasa y beta-galactosidasa, ocasionada a su vez por la mutación de un gen situado en el cromosoma 20 humano. Provoca afectación de diferentes órganos y síntomas diversos, muy variable en cuanto a gravedad dependiendo de los casos. Existen 3 formas, la infantil temprana, la infantil tardía y la juvenil o adulta. La forma infantil temprana provoca síntomas que están presentes desde el nacimiento, entre ellos aumento del tamaño del hígado (hepatomegalia), ascitis, trastornos del esqueleto y perdida de visión.​
foaf:name
Galactosialidosis
dbp:name
Galactosialidosis
foaf:depiction
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dcterms:subject
dbc:Rare_diseases dbc:Autosomal_recessive_disorders dbc:Glycoprotein_metabolism_disorders
dbo:wikiPageID
17720767
dbo:wikiPageRevisionID
1103144496
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owl:sameAs
dbpedia-fa:گالاکتوسیالیدوز dbpedia-de:Galaktosialidose dbpedia-sr:Галактозијалидоза n20:2426 freebase:m.047nlpm n22:VfNT n20:433 n23:Galaktozialidoza wikidata:Q1491661 yago-res:Galactosialidosis dbpedia-es:Galactosialidosis dbpedia-it:Galattosialidasi
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dbo:thumbnail
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dbp:caption
Lysosomes contain digestive enzymes that break down cellular waste.
dbp:synonyms
Neuraminidase deficiency with beta-galactosidase deficiency
dbo:abstract
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, late infantile, and juvenile/adult. This condition is considered rare, with most cases having been in the juvenile/adult group of patients. La galactosialidosis (GSL) es una enfermedad congénita y hereditaria que pertenece al grupo de las enfermedades por depósito lisosomal. Está provocada por deficiencia de las enzimas neuraminidasa y beta-galactosidasa, ocasionada a su vez por la mutación de un gen situado en el cromosoma 20 humano. Provoca afectación de diferentes órganos y síntomas diversos, muy variable en cuanto a gravedad dependiendo de los casos. Existen 3 formas, la infantil temprana, la infantil tardía y la juvenil o adulta. La forma infantil temprana provoca síntomas que están presentes desde el nacimiento, entre ellos aumento del tamaño del hígado (hepatomegalia), ascitis, trastornos del esqueleto y perdida de visión.​ Galaktosialidose (auch Goldberg-Syndrom oder Neuraminidase-β-Galaktosidase-Mangel) ist eine sehr seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen. La galattosialidasi o anche sindrome di Goldberg o deficit di galattosidasi β-neuraminidasi è una rara malattia ereditaria di tipo autosomico recessivo facente parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale, del sottogruppo delle . La malattia è causata dalla mutazione del gene che codifica la , una proteina protettiva.
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