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Mucopolysaccharidosis in children: symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Mucopolysaccharidosis (MPS) is a hereditary metabolic disease from the group of lysosomal accumulation diseases. The development of hereditary mucopolysaccharidosis is caused by a disruption in the function of lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), important structural components of the intracellular matrix. Accumulation of partially degraded glycosaminoglycans in lysosomes leads to a gradual death of cells and tissues and, consequently, organ dysfunction. According to modern classification, there are 10 types of hereditary mucopolysaccharidosis. Each of them is caused by the inadequacy of one of the lysosomal enzymes that participate in the cascade reactions of the cleavage of glycosaminoglycans.
All mucopolysaccharidoses, except for mucopolysaccharidosis II, linked to the X chromosome, are inherited in an autosomal recessive type. According to their phenotypic manifestations, mucopolysaccharidosis is divided into two large groups: mucopolysaccharidosis with a Hurler-like phenotype (MPS I, MPS II, MPS III, MPS VI and MPS VII) and mucopolysaccharidosis with a Morky-like phenotype (MPS IV A and MPS IV B). The clinical manifestations of mucopolysaccharidosis from each group are very similar and may not always be correctly differentiated without additional laboratory studies.
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