Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain.

M.Z Jones,R.A Laine

doi:10.1016/s0021-9258(19)69383-x

Abstract

In 1975 a new caprine neurovisceral storage disease was identified in related Nubian goats in Michigan (Jones, M. Z., Cunningham, J. G., Dade, A. W., and Alessi, D. M. (1979) Soc. Neurosci. Abstr. 5, 513). The affected kids of both sexes showed profound neurological deficits at birth, lack of myelination in cerebral hemispheres and cerebellum, axonal lesions, and cytoplasmic vacuolation. A similar genetic syndrome arose independently in a population of Anglo-Nubian goats in New South Wales (Hartley, W. J., and Blakemore, W. F. (1973) Acta Neuropathol. 25, 325-333). Preliminary chemical characterization of an accumulated metabolite was performed. An extract of 1 g of brain from an affected goat was found to contain 2.2 mumol of the trisaccharide Man (beta 1 goes to 4)GlcNAc(beta 1 goes to 4)GlcNAc (beta-mannosylchitobiose). The accumulation of this substance suggests the possibility of a genetic defect in beta-mannosidase in the catabolic pathway for N-linked complex glycopeptides and would be the first indication of a beta-mannosidosis.

Highlights

In 1975 a new caprine neurovisceral storage disease was identified in related Nubian goats in Michigan
In 1975, a new caprine neurovisceral storage disease was identified in offspring of related Nubian goats in Michigan [1]
The unusual occurrence of the chitobiose in the molecule must arise from cleavage of glycopeptides by an oligosaccharide 83-4-L-aspartylglycosylamine amidohydrolase [14] rather than by an endo-/8-glucosaminidase

Summary

Introduction

In 1975 a new caprine neurovisceral storage disease was identified in related Nubian goats in Michigan An extract of 1 g of brain from an affected goat was found to contain 2.2 ,tmol of the trisaccharide Man (fBl-- 4)GlcNAc(f1-s 4)GlcNAc (B3mannosylchitobiose) The accumulation of this substance suggests the possibility of a genetic defect in /3mannosidase in the catabolic pathway for N-linked complex glycopeptides and would be the first indication of a /3-mannosidosis. In 1975, a new caprine neurovisceral storage disease was identified in offspring of related Nubian goats in Michigan [1]. Affected kids of both sexes demonstrated severe neonatal neurological deficits, including an intention tremor and flexion contractures. Kids were kept alive only by hand rearing These clinicopathological fimdings appeared similar in most respects to those described by Hartley and Blakemore in 1973 in New South Wales [2]. Brain tissue was obtained from an affected goat and an age- and sex-matched control in an attempt to identify an accumulated metabolite

Methods

Results

Conclusion