GM2 gangliosidosis, Muntjak deer

MONDO:1012689

A lysosomal storage disease that occurs in Muntjak deer in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme β-hexosaminidase A. It is characterised by depression, ataxia, circling and visual deficits from an early age.

Also known as: gangliosidosis, GM2, type I (B variant), Muntjak deer

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Broader categories

Disease (618) Gangliosidosis, non-human animal (0) Hereditary disease, non-human animal (0) Inborn errors of metabolism, non-human animal (0) Lysosomal storage disease, non-human animal (0) Metabolic disease, non-human animal (0) Non-human animal disease (0)

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