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Tay-Sachs Disease - Medical Condition Information

Tay-Sachs Disease

Gangliosidosis GM2 Type 2
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📋Overview

Tay-Sachs disease is a rare inherited neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A, leading to accumulation of GM2 ganglioside in nerve cells. It is a classic lysosomal storage disorder primarily affecting the central nervous system. The term Tay-Sachs remains the preferred name for this condition.

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Medical codes (for reference)

UMLS CUI: C0039373
ICD-10-CM
E75.02
MeSH
D013661
SNOMED CT (US)
111385000

Codes are provided for reference and interoperability. They are not a diagnosis.

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