Medical expert of the article
New publications
Mucopolysaccharidoses in children: symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Mucopolysaccharidoses (MPS) are hereditary metabolic diseases from the group of lysosomal storage diseases. The development of hereditary mucopolysaccharidoses is caused by dysfunction 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 gradual death of cells and tissues and, consequently, organ dysfunction. According to the modern classification, there are 10 types of hereditary mucopolysaccharidoses. Each of them is caused by deficiency of one of the lysosomal enzymes involved in cascade reactions of glycosaminoglycan breakdown.
All mucopolysaccharidoses, except for X-linked mucopolysaccharidosis II, are inherited in an autosomal recessive manner. According to their phenotypic manifestations, mucopolysaccharidoses are 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 Morquio-like phenotype (MPS IV A and MPS IV B). According to the clinical manifestations, mucopolysaccharidoses from each group are very similar and cannot always be correctly differentiated without additional laboratory tests.
[ What tests are needed?
Использованная литература