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Tay-Sachsova choroba

Subject h.	Tay-Sachsova choroba
Subject h.	Tay-Sachs Disease
Entry terms	idiocia amaurotická familiárna gangliozidóza G(M2), typ I gangliozidóza GM2, typ 1 gangliozidóza GM2, variant B GM2-gangliozidóza, variant B choroba z deficitu hexozaminidázy A choroba z deficiencie hexozaminidázy A deficiencia HexA deficit HexA Tayova-Sachsova choroba, variant B deficit hexozaminidázy A deficiencia hexozaminidázy A nedostatok hexozaminidázy A deficit alfa-podjednotky hexozaminidázy deficit alfa-subjednotky hexozaminidázy deficiencia alfa-podjednotky hexozaminidázy deficiencia alfa-subjednotky hexozaminidázy Tay-Sachsova sfingolipidóza Tay-Sachsova choroba, B-variant Tayova-Sachsova choroba
English X references	G(M2) Gangliosidosis, Type I Gangliosidosis G(M2), Type I Gangliosidosis GM2, B Variant Hexosaminidase A Deficiency Disease Tay-Sachs Disease, B Variant
Scope note in English	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
See also reference (FX) in Slovak	beta-N-acetylhexozaminidázy
See also reference (FX) in English	beta-N-Acetylhexosaminidases
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Number of the records: 1