GM1 gangliosidosis GLB1-related, sheep

MONDO:1010848

A lysosomal storage disease in sheep due to a mutation in the GLB1 gene. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Also known as: gangliosidosis GM1, sheep

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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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