The Mucolipidoses

Reuben Matalon, Kimberlee Michals Matalon

Research output: Chapter in Book/Report/Conference proceedingChapter


The mucolipidoses emerged as a unique group of inherited disorders that originally were considered to be part of the mucopolysaccharidoses. The storage material within tissues or cultured skin fibroblasts includes lipids and glycosaminoglycans. These disorders are not characterized by mucopolysacchariduria.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Number of pages4
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
StatePublished - Nov 13 2014
Externally publishedYes


  • Glycosaminoglycan
  • Lysosomal enzyme trafficking
  • Mannose 6-phosphate
  • Mucolipin 1
  • N-acetylglu-cosaminyl-1-phosphotransferase
  • Pseudo-Hurler polydystrophy
  • Sialidoses

ASJC Scopus subject areas

  • General Medicine


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