| 英文描述 | An autosomal recessive lysosomal storage disease caused the death of affected Suffolk lambs at 4-6 months of age. There was a profound deficiency of lysosomal beta-galactosidase and partial deficiency of alpha- neuraminidase; the ovine disease was homologous with human GM1 gangliosidosis (Murnane et al. 1991). Affected animals suddenly develop ataxia that rapidly progresses to prostration. There are no pathognomonic clinicopathologic abnormalities. Antemortem diagnosis requires enzyme assay of leukocytes or cultured fibroblasts, or lectin histochemistry of tissues obtained at biopsy (Murnane et al. 1994). |
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