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A case of galactosialidosis.

Abstract
Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, caused by a defect of another lysosomal protein, the protective protein. Three subtypes are recognized: the early infantile form, the late infantile form and the juvenile/adult form. We saw a patient with galactosialidosis of the juvenile/adult form, a 51-year-old Japanese man with angiokeratomas on both elbows and knees, myoclonus, ataxia, mental retardation and macular cherry-red spots. An electron-microscopic study of a skin biopsy showed membrane-limited vacuoles in the cytoplasm of the endothelial cells, pericytes and fibroblasts. Assays of enzymatic activity in cultured fibroblasts showed a marked decrease in both beta-galactosidase and neuraminidase (sialidase). The substance contained in the cytoplasmic vacuoles appears to be glycoproteins with sialic acid, which is a terminal glycosyl residue, because the cytoplasm of the endothelial cells of the vessels and pericytes are stained by the Limax flavus agglutinin, a lectin that binds specifically with sialic acid. This technology may be useful for easy investigation of the distribution of the accumulation of such substances in the central nervous system.
AuthorsY Nobeyama, M Honda, M Niimura
JournalThe British journal of dermatology (Br J Dermatol) Vol. 149 Issue 2 Pg. 405-9 (Aug 2003) ISSN: 0007-0963 [Print] England
PMID12932252 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Neuraminidase
  • beta-Galactosidase
Topics
  • Angiokeratoma (pathology)
  • Humans
  • Lysosomal Storage Diseases (pathology)
  • Male
  • Middle Aged
  • Neuraminidase (deficiency)
  • Skin (ultrastructure)
  • Skin Neoplasms (pathology)
  • beta-Galactosidase (deficiency)

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