Phospholipids accumulation in mucolipidosis IV cultured fibroblasts

J Inherit Metab Dis. 1988;11(2):144-50. doi: 10.1007/BF01799863.


Cultured fibroblasts from mucolipidosis IV patients accumulated phospholipids when compared to normal controls or cells from other genotypes. The major stored compounds were identified as phosphatidylcholine, phosphatidylethanolamine and to a larger extent lysophosphatidylcholine and lysobisphosphatidic acid. Pulse chase experiments of 32P-labelled phospholipids showed increased retention of these compounds in the mucolipidosis IV lines throughout the pulse and chase periods. Phospholipase A1, A2, C, D and lysophospholipase showed normal activity in the mucolipidosis IV lines and thus the metabolic cause for this storage remains to be identified.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Fibroblasts / metabolism
  • Humans
  • Mucolipidoses / metabolism*
  • Neuraminidase / analysis
  • Phospholipids / metabolism*


  • Phospholipids
  • GM3 ganglioside sialidase
  • Neuraminidase