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British journal of dermatology (1951), 2003-08, Vol.149 (2), p.405-409
Ort / Verlag
Oxford, UK: Blackwell Science Ltd
Erscheinungsjahr
2003
Link zum Volltext
Quelle
Wiley Blackwell Single Titles
Beschreibungen/Notizen
Summary Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of β‐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 β‐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.