Mucolipidosis I--a sialidosis

Am J Med Genet. 1977;1(1):21-9. doi: 10.1002/ajmg.1320010104.


Mucolipidosis I is characterized by Hurler-like features and skeletal dysplasia with a cherry-red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid-containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an alpha-N-acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.

Publication types

  • Case Reports

MeSH terms

  • Cells, Cultured
  • Child
  • Child, Preschool
  • Follow-Up Studies
  • Humans
  • Hydrolases / metabolism
  • Lysosomes / enzymology
  • Male
  • Mucolipidoses / genetics
  • Mucolipidoses / metabolism*
  • Neuraminidase / genetics
  • Neuraminidase / metabolism*
  • Phenotype
  • Sialic Acids / metabolism
  • Skin / enzymology


  • Sialic Acids
  • Hydrolases
  • Neuraminidase