Volume : IV, Issue : X, October - 2014

Mucopolysaccharidosis: A Case Report

Dr. Neeru Assudani, Dr. Priscilla Joshi, Dr. Nagesh Seth, Dr. Wasim Siddiqui

Abstract :

Mucopolysaccharidosis (MPS) is a group of autosomal recessive metabolic disorders caused by the absence or malfunctioning of the lysosomal enzymes needed to eak down molecules called glycosaminoglycans (GAGs). Glycosaminoglycans (formerly called mucopolysaccharides) help build bone, cartilage bone, cartilage, tendons, corneas, skin and connective tissues .These are also found in the fluid that luicates joints. In MPS absence or malfunctioning of enzymes results in accumulation of GAGs in the cells, blood and connective tissues. This results in permanent, progressive cellular damage which affects the appearance, physical abilities, organ and system functioning and, in most cases, mental development. The typical symptoms include organomegaly, dysostosis multiplex, mental retardation and developmental delay. Definitive diagnosis is usually possible through enzymatic assays of the defective enzyme in cultured fioblasts or leukocytes Skeletal radiograph and MRI may show specific features in MPS patients, although it is not possible to accurately differentiate between MPS types based on skeletal and neurological characteristics. The evaluation of these imaging findings is useful for suggesting and supporting MPS as a possible diagnosis.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Dr. Neeru Assudani, Dr. Priscilla Joshi, Dr. Nagesh Seth, Dr. Wasim Siddiqui Mucopolysaccharidosis: A Case Report Indian Journal of Applied Research, Vol.4, Issue : 10 October 2014

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