Diseases

Mucolipidoses

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

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MeSH Record

Synonyms

55 entry terms
  • Mucolipidosis
  • Sialidosis
  • Sialidoses
  • Cherry Red Spot Myoclonus Syndrome
  • Cherry Red Spot-Myoclonus Syndrome
  • Deficiency Disease, Ganglioside Sialidase
  • Ganglioside Sialidase Deficiency Disease
  • Glycoprotein Neuraminidase Deficiency
  • I-Cell Disease
  • Inclusion Cell Disease
  • Lipomucopolysaccharidosis
  • Mucolipidosis I
  • Mucolipidosis II
  • Mucolipidosis III
  • Mucolipidosis III Alpha Beta
  • Mucolipidosis IIIa
  • Mucolipidosis IV
  • Mucolipidosis Type 1
  • Mucolipidosis Type I
  • Mucolipidosis Type II
  • Mucolipidosis Type III
  • Mucolipidosis Type IV
  • Myoclonus Cherry Red Spot Syndrome
  • Myoclonus-Cherry Red Spot Syndrome
  • Pseudo-Hurler Polydystrophy
  • Psuedo-Hurler Disease
  • Sialolipidosis
  • Type I Mucolipidosis
  • Type II Mucolipidosis
  • Type III Mucolipidosis
  • Type IV Mucolipidosis
  • Deficiencies, Glycoprotein Neuraminidase
  • Deficiency, Glycoprotein Neuraminidase
  • Glycoprotein Neuraminidase Deficiencies
  • I Cell Disease
  • I-Cell Diseases
  • Inclusion Cell Diseases
  • Lipomucopolysaccharidoses
  • Mucolipidoses, Type I
  • Mucolipidoses, Type II
  • Mucolipidoses, Type III
  • Mucolipidoses, Type IV
  • Mucolipidosis, Type I
  • Mucolipidosis, Type II
  • Mucolipidosis, Type III
  • Mucolipidosis, Type IV
  • Polydystrophy, Pseudo-Hurler
  • Pseudo Hurler Polydystrophy
  • Psuedo Hurler Disease
  • Psuedo-Hurler Diseases
  • Sialolipidoses
  • Type I Mucolipidoses
  • Type II Mucolipidoses
  • Type III Mucolipidoses
  • Type IV Mucolipidoses

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2000(1977)

MeSH Record

Previous Indexing

  • Lipid Metabolism, Inborn Errors (1966-1976)
  • Lipochondrodystrophy (1966-1976)
  • Lipoidosis (1966-1976)
  • Mucopolysaccharidosis (1974-1976)

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References

  1. National Library of Medicine. Mucolipidoses. Medical Subject Headings (MeSH). 2026. Unique ID D009081. http://id.nlm.nih.gov/mesh/2026/D009081
  2. Mucolipidoses. In: Wikipedia. https://en.wikipedia.org/wiki/Mucolipidosis
  3. Mucolipidoses. In: Wikidata. https://www.wikidata.org/wiki/Q1952032