[Mucopolysaccharidoses--biochemical mechanisms of diseases and therapeutic possibilities].

Abstract

Mucopolysaccharidoses (MPS) are inherited metabolic diseases from the group of lysosomal storage disorders (LSD). They are caused by genetic defects resulting in the absence or severe deficiency in one of lysosmal hydrolases involved in degradation of glycosaminoglycans (GAG). Partially degraded GAGs are accumulated in lysosomes, causing dysfunction of cells, tissues and organs. Last years did bring some breakthrough discoveries, which were important to understand biochemical mechanisms of MPS appearance and course, as well as to develop therapeutic procedures for these inherited metabolic disorders.

• Authors: Anna Kloska, Anna Tylki-Szymańska, Grzegorz Wegrzyn
• Journal: Postepy biochemii (Postepy Biochem) Vol. 57 Issue 2 Pg. 133-47 ( 2011) ISSN: 0032-5422 [Print] Poland
• Vernacular Title: Mukopolisacharydozy--biochemiczne mechanizmy chorób oraz mozliwości terapeutyczne.
• PMID: 21913414 (Publication Type: English Abstract, Journal Article, Review)

Topics

• Diagnosis, Differential
• Humans
• Mucopolysaccharidoses (diagnosis, metabolism, therapy)