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Lysosomal transport disorders
Author(s) -
Mancini G. M. S.,
Havelaar A. C.,
Verheijen F. W.
Publication year - 2000
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 - 10.1023/a:1005640214408
Subject(s) - cystinosis , lysosomal storage disorders , intracellular , intracellular transport , lysosomal storage disease , biology , solute carrier family , transporter , medicine , bioinformatics , genetics , biochemistry , gene , pathology , disease , cystine , cysteine , enzyme
In the group of lysosomal storage diseases, transport disorders occupy a special place because they represent rare examples of inborn errors of metabolism caused by a defect of an intracellular membrane transporter. In particular, two disorders are caused by a proven defect in carrier‐mediated transport of metabolites: cystinosis and the group of sialic acid storage disorders (SASD). The recent identification of the gene mutations for both disorders will improve patient diagnosis and shed light on new physiological mechanisms of intracellular trafficking.