
📋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.
Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
Medical codes (for reference)
UMLS CUI: C0039373Codes are provided for reference and interoperability. They are not a diagnosis.
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