The biochemistry and clinical features of galactosialidosis

Biochim Biophys Acta. 1994 Feb 22;1225(3):244-54. doi: 10.1016/0925-4439(94)90002-7.

Abstract

Galactosialidosis is a heterogeneous disorder that is manifested in infantile, late infantile, juvenile/adult, and atypical forms. In every instance the primary defect is in the ability of protective protein to associate with beta-galactosidase and neuraminidase to protect them from intralysosomal proteolysis. The protective protein is in reality a serine protease that displays both cathepsin A and C-terminal deamidase activity. We summarize the major clinical features of each form, and the range of storage products accumulated. The concept of an intralysosomal complex containing beta-galactosidase and neuraminidase in addition to protective protein seems irrefutable but major gaps exist in our understanding of how the complex is formed and in what subcellular organelles, how it is sustained, and the protein domains contributed by the constituent enzymes that play a pivotal role in this process.

Publication types

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

MeSH terms

  • Carbohydrate Sequence
  • Carboxypeptidases / chemistry
  • Carboxypeptidases / metabolism*
  • Cathepsin A
  • Glycoproteins / chemistry
  • Glycoproteins / metabolism*
  • Humans
  • Lysosomal Storage Diseases / metabolism*
  • Lysosomal Storage Diseases / pathology
  • Molecular Sequence Data
  • Neuraminidase / metabolism*
  • Oligosaccharides / metabolism
  • Oligosaccharides / urine
  • Structure-Activity Relationship
  • beta-Galactosidase / metabolism*

Substances

  • Glycoproteins
  • Oligosaccharides
  • sialooligosaccharides
  • Neuraminidase
  • beta-Galactosidase
  • Carboxypeptidases
  • CTSA protein, human
  • Cathepsin A