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Mannosidosis: Studies of the α-D-Mannosidase Isozymes in Health and Disease

  • R. J. Desnick
  • L. L. Walling
  • P. M. Anderson
  • M. K. Raman
  • H. L. Sharp
  • J. U. Ikonne
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)

Abstract

Mannosidosis, a systemic lysosomal storage disease first described by Ockerman (22), is characterized by psychomotor retardation, a facial dysmorphia resembling that of the Hurler syndrome, dysostosis multiplex, hepatosplenomegaly, hearing loss, recurrent infections and autosomal recessive inheritance. The primary metabolic defect responsible for these manifestations is the deficiency of the acidic α-mannosidase activity (α-D-mannoside mannohydrolase EC 3.2.1.24) (4,19,22) which results in the lysosomal accumulation of mannose-rich oligosaccharides in neural (23) and visceral tissues (1,22) and in the urine (1,20,21,32) of affected homozygous patients. Presumably this enzymatic defect also leads to the accumulation of other glycoconjugate substrates with terminal α-mannosyl residues as evidenced by the recent finding of abnormal glycopeptides, rich in mannose, in cultured skin fibroblasts from a homozygote with mannosidosis (33).

Keywords

Hearing Loss Amniotic Fluid Acidic Activity Liver Extract Culture Skin Fibroblast 
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 1976

Authors and Affiliations

  • R. J. Desnick
    • 1
    • 2
    • 3
  • L. L. Walling
    • 2
    • 3
  • P. M. Anderson
    • 2
    • 3
  • M. K. Raman
    • 2
    • 3
  • H. L. Sharp
    • 1
  • J. U. Ikonne
    • 2
    • 3
  1. 1.Department of PediatricsUniversity of MinnesotaMinneapolisUSA
  2. 2.Department of Genetics and Cell BiologyUniversity of MinnesotaMinneapolisUSA
  3. 3.The Dight Institute for Human GeneticsUniversity of MinnesotaMinneapolisUSA

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