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Alpha-Mannosidase Deficiency in Persian Cats: A Model of Human Alpha-Mannosidosis

  • Joseph Alroy
  • Kenneth L. Schunk
  • Srinivasa S. Ranghavan
  • Christopher D. Warren
  • Peter F. Daniel
  • Edwin H. Kolodny
Part of the NATO ASI Series book series (NSSA, volume 150)

Summary

A family of cats deficient in lysosomal α-mannosidase activity was studied. Analysis of the family pedigree indicated an autosomal recessive mode of inheritance. All affected kittens had frontal bossing, facial coarsening and dysostosis multiplex. They had retarded growth and developed progressive ataxia, tremor, corneal and lenticular opacities, and hepatomegaly. Thin layer chromatography and high pressure liquid chromatography of urine revealed partially degraded N glycoprotein-derived oligosaccharides. Activity of acidic α-mannosidase from plasma and leukocytes of affected kittens was less than 2% of normal, while the enzyme activity of heterozygotes was less than 50%. In blood smears, 90% of circulating lymphocytes were vacuolated. Ultrastructural studies of circulating white blood cells revealed vacuoles containing storage material in various cell types. Affected animals died or were killed at an early age due to the severity of the disease. Most cell types in visceral, neural and skeletal organs were affected. These cells were enlarged, vacuolated and contained fine granular material or appeared empty. The course of this disease in cats and the morphological and biochemical changes, are similar to those seen in the infantile phenotype of human α-mannosidosis.

Keywords

High Pressure Liquid Chromatography Lysosomal Storage Disease Frontal Boss Autosomal Recessive Mode Lenticular Opacity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • Joseph Alroy
    • 1
    • 2
    • 3
  • Kenneth L. Schunk
    • 1
    • 2
    • 3
  • Srinivasa S. Ranghavan
    • 1
    • 2
    • 3
  • Christopher D. Warren
    • 1
    • 2
    • 3
  • Peter F. Daniel
    • 1
    • 2
    • 3
  • Edwin H. Kolodny
    • 1
    • 2
    • 3
  1. 1.Massachusetts General HospitalBostonUSA
  2. 2.Tufts UnivesityBostonUSA
  3. 3.Grafton E.K. Shriver Center WalthamUSA

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