Abstract

CLAROS COCA, Zenia. MUCOPOLYSACCHARIDOSIS III. BIBLIOGRAPHIC REVIEW. Rev Cient Cienc Méd [online]. 2022, vol.25, n.1, pp.42-48.  Epub Sep 31, 2022. ISSN 1817-7433.  https://doi.org/10.51581/rccm.v25i1.467.

Mucopolysaccharidosis III is a rare disease, with an incidence of 1 in 70 000 live births, it is the most frequent within the group of Mucopolysaccharidosis and is caused by a defect in the heparan sulfate metabolism pathway. It is characterized by affecting the central nervous system in greater depth, the patient has a normal development until approximately 1 to 3 years of age and later begins with progressive deterioration, courses with developmental delay, behavioral alteration and sleep disorder, adding motor deficits and infectious pictures, culminating in a state of prostration. Life expectancy ranges from 20 to 30 years, although it depends on the phenotype, and the main cause of death is pneumonia. Definitive diagnosis is achieved by genomic tests and enzymatic assay. It does not have curative treatment, only palliation and support in the face of the complications that it develops.

Keywords : Mucopolysaccharidosis III; Rare Diseases; Heparitin Sulfate.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )