Tay-Sachs Disease

IRI:

https://folio.openlegalstandard.org/RCeiGFdK6TTSZb0MaH3Uj3P

Preferred Label N/A

Alternative Labels

GM2 Gangliosidosis Type I Hexosaminidase A Deficiency

Definition

Tay-Sachs disease is a rare, inherited neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A. This deficiency leads to the accumulation of GM2 gangliosides, which are toxic to nerve cells.

Class Relationships

Parent(s)

• Congenital Disorders that Affect Multiple Body Systems
• Neurocognitive Disorders

Is Defined By

N/A

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Additional Information

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Description

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Notes

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Editorial Information

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Identifier

N/A

Deprecated

Source and Origin

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