Gene/Protein Disease Symptom Drug Enzyme Compound
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The clinical features of caprine beta-mannosidosis were evaluated in 10 newborn goats, one stillborn goat and one goat fetus. The phenotypic abnormalities observed in all 10 live affected animals included an inability to rise from a recumbent position, moderate to marked intention tremor, eye movements resembling pendular nystagmus, clinical deafness, bilateral Horner's syndrome, carpal contractures, pastern joint hyperextension, thickened skin and to a varying degree, a dome-shaped skull. Subjective evaluation suggested that most animals had a decreased muscle mass. Together, these characteristics represent a common phenotype which is expressed at birth in caprine beta-mannosidosis.
Vet Rec 1986 Mar 22
PMID:Caprine beta-mannosidosis: phenotypic features. 293 17

Mannosidosis, an inherited and lethal lysosomal storage disease of Aberdeen Angus cattle, was diagnosed on a farm in north-east Scotland. Two affected calves were examined in detail. Both were poorly grown and ataxic, though the intention tremor and aggression considered characteristic of the disease were not recorded. Histological examination revealed typical vacuolation of nerve cells, fixed macrophages and epithelial cells of the viscera. Deficiency of the enzyme alpha mannosidase was demonstrated. The epidemiology of the disorder in Scotland is considered and control methods indicated.
Vet Rec 1981 Nov 14
PMID:Mannosidosis in Aberdeen Angus cattle in Britain. 730 58

A six-month-old shiba dog with a one-month history of progressive motor dysfunction showed clinical signs of a cerebellar disorder, including ataxia, dysmetria and intention tremor of the head. Histopathological and ultrastructural studies revealed distended neurons packed with membranous cytoplasmic bodies throughout the central nervous system. The activities of lysosomal acid beta-galactosidase in its leucocytes and liver were less than 2 per cent of the control levels, and the compound accumulated in the brain was identified as GM1 ganglioside. A sibling which died immediately after birth was shown to have a beta-galactosidase deficiency in the brain and visceral organs. A family study revealed that the sire and dam of the probands were heterozygotes with approximately half of the normal level of beta-galactosidase activity, suggesting an autosomal recessive pattern of inheritance.
Vet Rec 2000 Apr 22
PMID:GM1 gangliosidosis in shiba dogs. 1088 96

A four-year-old wire-haired dachshund developed progressive neurological signs of ataxia, intention tremor and finally dysuria. Two years later, histopathology showed that neurons throughout the brain and spinal cord were distended with lipopigment which was also present in macrophages. Ultrastructurally, the pigment in the neurons occurred predominantly as electron-dense membranous whorls and stacks. There were a few vacuolated macrophages in the meninges. Hepatocytes were highly vacuolated and electron microscopy suggested that they were empty membrane-bound vesicles. The disease was diagnosed as mucopolysaccharidosis IIIA because of its similarity to other biochemically confirmed cases in the same breed and in a New Zealand huntaway dog. Additional lesions included calcium oxalate uroliths, severe secondary calcification of tissues including the brain and storage deposits in some neurons, and lesions which may have been associated with high levels of the substrate, heparan sulphate.
Vet Rec 2001 May 05
PMID:Histological diagnosis of mucopolysaccharidosis IIIA in a wire-haired dachshund. 1137 Aug 81