Clinical, diagnostic and therapeutic characteristics of mucopolysaccharidosis

Authors

DOI:

https://doi.org/10.5281/zenodo.7897451

Keywords:

Mucopolysaccharidosis, Glycosaminoglycans, Enzymes, Quality of Life.

Abstract

Introduction: mucopolysaccharidoses are a group of rare and innate disorders caused by the dysfunction or absence of lysosomal enzymes involved in the degradation of mucopolysaccharides or also called glycosaminoglycans.

Objective: to describe clinical, diagnostic and therapeutic aspects of mucopolysaccharidosis.

Method: a narrative bibliographic review was carried out, using the synthetic and historical-logical analytical methods, by analyzing the articles retrieved from the SciELO, Scopus and ClinicalKey databases. Filters were used for the selection of articles in English and Spanish languages; as well as articles published in the period 2018 to 2023. A total of 110 references addressing the main clinical epidemiological characteristics of the disease in question were selected.

Results: mucopolysaccharidosis generally occurs in 1 in 28,000 live newborns; it is of autosomal recessive inheritance where mucopolysaccharidosis type II has X-linked inheritance. The characteristics of mucopolysaccharidosis are varied due to disseminated organ involvement; among the most visible are short stature, large head, microscopic face, thick lips and eyebrows, large eyes with corneal opacity, developmental or psychomotor delay with progressive neurological involvement.

Conclusions: Mucopolysaccharidoses are a group of inherited metabolic diseases. In mucopolysaccharidosis an adequate diagnosis is essential to improve the life expectancy of patients. The treatment of mucopolysaccharidosis is based on reducing the progression of the disease with the consequent improvement of the patient's quality of life.

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References

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Published

2023-04-20

How to Cite

1.
Carvajal Gavilanes JS, Plazarte Mullo JA, Silva Mata MA. Clinical, diagnostic and therapeutic characteristics of mucopolysaccharidosis. Univ. Méd. Pinareña [Internet]. 2023 Apr. 20 [cited 2025 Apr. 19];19:e960. Available from: https://revgaleno.sld.cu/index.php/ump/article/view/960

Issue

Vol. 19 (2023): Vol.19 (Sistema de Publicación Continua)

Section

Review article

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