Premium
Disorders of glycoprotein degradation
Author(s) -
Cantz M.,
UlrichBott B.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799510
Subject(s) - mucolipidosis , glycoprotein , biochemistry , proteases , sialic acid , lysosome , lysosomal storage disease , enzyme , chemistry , lysosomal storage disorders , oligosaccharide , biology
Summary The intracellular degradation of glycoproteins occurs predominantly in the lysosomes through the concerted action of proteases and glycosidases. Genetic defects in any of the enzymes cleaving the oligosaccharide side chains lead to specific diseases because of an excessive lysosomal accumulation of partially degraded material, mostly oligosaccharides. This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, α ‐and β ‐mannosidosis, fucosidosis, aspartylglucosaminuria, and α ‐N‐acetylgalactosaminidase deficiency (Schindler disease). In addition, the sialic acid storage disorder (Salla disease) which is caused by a defect in the lysosomal transport of this acidic monosaccharide is included because of functional and clinical correlations.