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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Galactosialidosis


Other Names for this Disease

  • Cathepsin A deficiency of
  • Goldberg syndrome
  • GSL
  • Lysosomal protective protein deficiency of
  • Neuraminidase deficiency with beta-galactosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

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What causes galactosialidosis?

Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework.[1]

CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely.[1]

Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.[1]

Last updated: 5/16/2011

References
  1. Galactosialidosis. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/galactosialidosis. Accessed 5/16/2011.


Other Names for this Disease
  • Cathepsin A deficiency of
  • Goldberg syndrome
  • GSL
  • Lysosomal protective protein deficiency of
  • Neuraminidase deficiency with beta-galactosidase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.