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Bovine beta-mannosidase deficiency.

L Bryan1, S Schmutz, S D Hodges

  • 1Regional Veterinary Laboratory, Alberta Agriculture, Airdrie, Canada.

Biochemical and Biophysical Research Communications
|December 14, 1990
PubMed
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A fatal inherited disorder in Salers cattle causes severe neurological and organ damage in calves. This glycoprotein storage disorder is caused by a deficiency in beta-mannosidase, inherited in an autosomal recessive pattern.

Area of Science:

  • Veterinary Genetics
  • Biochemistry
  • Animal Pathology

Background:

  • A fatal inherited disorder affects Salers cattle, impacting both sexes.
  • Clinical signs include inability to stand at birth, intention tremors, enlarged kidneys, and neurological deficits.

Purpose of the Study:

  • To characterize a novel inherited glycoprotein storage disorder in Salers cattle.
  • To investigate the biochemical basis and inheritance pattern of the disorder.

Main Methods:

  • Clinical and pathological examination of affected calves.
  • Biochemical assays for beta-mannosidase activity in various tissues.
  • Genetic analysis of a test mating of obligate carriers.

Main Results:

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  • Affected calves exhibited severe cytoplasmic vacuolation in multiple tissues, particularly nervous, renal, lymphoid, and thyroid.
  • Gross deficiency in lymphocyte and brain beta-mannosidase activity was observed.
  • Test matings confirmed an autosomal recessive inheritance pattern with a 1:2:1 genotype ratio.

Conclusions:

  • The disorder is a beta-mannosidase deficiency, a type of glycoprotein storage disease.
  • Autosomal recessive inheritance is confirmed in Salers cattle.
  • This finding is crucial for genetic counseling and herd management in affected populations.