Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Beta-mannosidosis, an inherited defect of glycoprotein catabolism associated with deficiency of tissue beta-mannosidase and accumulation of Man(beta 1-4)GlcNAc and Man(beta 1-4)GlcNAc(beta 1-4)GlcNAc, appeared in four of 13 offspring of a single pair of clinically normal, related Nubian goats. Neurological examinations revealed that all four affected goats were unable to rise or walk. All had facial dysmorphism, dome-shaped skulls, small palpebral fissures, carpal contractures, hyperextension of the pastern joints, proximal muscle atrophy, intermittent ocular oscillations resembling pendular nystagmus, marked intention tremor, and deafness. With intensive care, three affected kids were hand-reared and then killed at 1, 7, and 21 days of age. Macroscopically, there were paucity of myelin in the cerebral and cerebellar hemispheres and ventricular dilatation. Microscopically, the extent and distribution of cytoplasmic vacuolation, myelin paucity, axonal spheroids, and filamentous expansions were evaluated in the cerebrum, cerebellum, brainstem, spinal cord, and peripheral nerves of the four affected kids and two age-matched, clinically normal kids. Widespread cytoplasmic vacuolation correlated with the previously reported accumulation of oligosaccharides in the brain and kidney and the deficiency of tissue beta-mannosidase. beta-Mannosidosis, not yet identified in man or other species, is characterized by distinctive neonatal clinical, pathological and biochemical features which differentiate it from the alpha-mannosidosis and other inherited diseases of glycoprotein catabolism.
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PMID:Caprine beta-mannosidosis: clinical and pathological features. 684 66

Caprine beta-mannosidosis, a fatal inherited deficiency of the lysosomal enzyme beta-mannosidase, was diagnosed in neonatal female Nubian crossbred twin kids from a small herd near Guelph, Ontario. The kids had been tetraplegic since birth, with whole body tremors, abnormal nystagmus and an intention tremor of the head.At necropsy, the histological lesions found consisted of widespread neuronal and visceral clear cytoplasmic vacuolation. Ultrastructurally, vacuoles were limited by a single membrane, and were empty or contained a small amount of amorphous dense material.Biochemical assay of sera and tissues confirmed negligible levels of beta-mannosidase activity, consistent with those of previously reported cases of caprine beta-mannosidosis.Vacuoles seen with light and electron microscopy are presumed to be lysosomes containing stored disaccharide and trisaccharide, the end products of incomplete catabolism of the oligosaccharide component of certain glycoproteins.
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PMID:Caprine beta-Mannosidosis in Kids from an Ontario Herd. 1742 28