Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A

Pediatr Res. 1984 Mar;18(3):302-5. doi: 10.1203/00006450-198403000-00025.

Abstract

A deficiency of glycoprotein neuraminidase (sialidase, acylneuraminyl hydrolase, EC 3.2.1.18) activity was found in fibroblasts from a patient with the clinical symptoms of Morquio disease type A (mucopolysaccharidosis IV A). Residual neuraminidase activity was about 5% of the mean normal activity. N-Acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase activity was reduced to less than 1% of normal with a pH-optimum of 3.0 as expected for the severe form of Morquio disease. In peripheral leucocytes of the patient, however, neuraminidase activity but not Ga1NAc-6-S sulfatase activity was in the normal range. Mixing experiments excluded the presence of excessive amounts of inhibitors of neuraminidase activity.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chondroitinsulfatases / deficiency
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Leukocytes / enzymology
  • Male
  • Mucopolysaccharidosis IV / enzymology*
  • Neuraminidase / deficiency*

Substances

  • Chondroitinsulfatases
  • Neuraminidase