Disease or Syndrome
mucopolysaccharidosis
Subclass of:
Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses
Definitions related to mucopolysaccharidoses:
  • (mucopolysaccharidosis) A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental developmental delay, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
    ACC/AHA Clinical Data Terminology
    American College of Cardiology and American Heart Association , 2020
  • (mucopolysaccharidosis) Any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue.
    CRISP Thesaurus
    National Institutes of Health, 2006
  • Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • Mucopolysaccharidoses are a type of lysosomal storage disorder in which complex sugar molecules are not broken down normally and accumulate in harmful amounts in body tissues. The result is a characteristic facial appearance and abnormalities of the bones, eyes, liver, and spleen, sometimes accompanied by intellectual disability....
    Merck Manuals
    Merck & Co., Inc., 2025
  • Mucopolysaccharides consist of glycosaminoglycans attached to a link protein with a hyaluronic acid core. Lysosomal enzymes degrade these macromolecules into smaller components.
    Medscape
    WebMD, 2025
  • Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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