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

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