how to cite this article: shiari r, vadood javadi p. rheumatologic manifestations of lysosomal storage diseases. iran j child neurol autumn 2012; 6:4 (suppl. 1): 20. pls see pdf.

gaucher disease (gd) is the most common type of lysosomal storage disorder and it is divided into three distinct subtypes. the authors here report four different cases of gaucher disease, with varying clinical manifestations, and the diagnosis of each established by the low level of beta-glucosidase enzyme as well as genetic dna testing. the study also highlights the importance of early diagnos...

pompe disease, also termed glycogen storage disease type ii or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (gaa), the glycogen degrading lysosomal enzyme. as a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. in pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosac...

Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. There are many recognized forms of LSDs and, although individually rare, their combi...