Neuraminidase deficiency with beta-galactosidase deficiency


Neuraminidase deficiency with beta-galactosidase deficiency also called Galactosialidosis, Goldberg syndrome,Cathepsin a deficiency. This means that Neuraminidase deficiency, or a subtype of Neuraminidase deficiency, affects less than 200,000 people in the US population.

Source - National Institutes of Health (NIH)


The list of signs and symptoms mentioned in various sources for Neuraminidase deficiency includes the 18 symptoms listed below:

  • Involuntary muscle contractions
  • Decreased vision
  • Night blindness
  • Painful neuropathy
  • Involuntary muscle contractions
  • Night blindness
  • Painful neuropathy
  • Increased reflexes
  • Rapid involuntary eye movements
  • Impaired ability to control voluntary movements
  • Grand mal seizures
  • Cherry red spot in macula
  • Coarse face
  • Enlarged liver
  • Enlarged spleen
  • Dysostosis multiplex
  • Mental retardation
  • Skeletal changes



Mutations in the CTSA gene cause all forms of galactosialidosis. 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.

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.

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.