[Mucopolysaccharidosis: clinical features, diagnosis and management]

Rev Chil Pediatr. 2016 Jul-Aug;87(4):295-304. doi: 10.1016/j.rchipe.2015.10.004. Epub 2015 Nov 21.
[Article in Spanish]

Abstract

The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. When there is a deficiency of a particular enzyme there is an accumulation of GAGs in the cells resulting in progressive cellular damage, which can affect multiple organ systems and lead to organ failure. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination. Their identification is essential to initiate early treatment, taking into account that multidisciplinary management and enzyme replacement therapy is available for MPS I (Hurler syndrome), MPS II (Hunter syndrome), MPS IV (Morquio syndrome), and MPS VI (Maroteaux-Lamy syndrome. In this review, an analysis is made of each of these syndromes, as well as their diagnosis and treatment.

Keywords: Hunter syndrome; Hurler syndrome; Hurler-Scheie syndrome; Mucopolisacaridosis; Mucopolysaccharidosis; Sanfilippo syndrome; Sly syndrome; Síndrome de Hunter; Síndrome de Hurler; Síndrome de Hurler-Scheie; Síndrome de Sanfilippo; Síndrome de Sly.

Publication types

  • Review

MeSH terms

  • Animals
  • Enzyme Replacement Therapy / methods*
  • Glycosaminoglycans / metabolism*
  • Humans
  • Mucopolysaccharidoses / diagnosis
  • Mucopolysaccharidoses / physiopathology*
  • Mucopolysaccharidoses / therapy

Substances

  • Glycosaminoglycans