Disease or Syndrome
mucolipidoses
Subclass of:
Lysosomal Storage Diseases, Nervous System; Carbohydrate Metabolism, Inborn Errors; Metabolic Bone Disorder
Definitions related to mucolipidoses:
  • (mucolipidosis) A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
    NCI
    U.S. National Cancer Institute, 2021
  • A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
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