Lisosomal storage diseases in rheumatology: when should we consider them?
Abstract
The lysosomal storage disease comprise a heterogeneous group of almost 50 disorders that are caused by genetic defects in a lysosomal acid hidrolase, receptor, protein activator, membrane protein, or transporter, causing lysosomal accumulation of substrates that are specific to each disorder, the accumulation is progressive, ultimately causing deterioration of cellular and tissue function. Many disorders affect the central nervous system and most patients have a decreased lifespan and significant morbility. The diagnosis must be established by specific enzyme assays and by mutational analysis. The aim of this review is to provide a guide in thinking about these rare diseases.
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