Galactosialidosis

Disease Overview

Galactosialidosis affects many different body systems, including the brain, eyes, muscles, and skeleton. There are three different types: early infantile, late infantile and juvenile/adult. The most common type is juvenile/adult galactosialidosis. Individuals with this type start developing symptoms in adolescence. Symptoms include difficulty walking, vision problems, spine abnormalities, dark red spots on the skin, and intellectual disability that gets worse with time. Symptoms of the early infantile and late infantile types are more severe and begin in infancy or early childhood. In these types, the symptoms tend to get worse over time and are associated with decreased survival. All three types of galactosialidosis are caused by variations in the CTSA gene and are inherited in an autosomal recessive pattern. Galactosialidosis is diagnosed based on a clinical exam, the symptoms, and genetic testing. Treatment is focused on managing the symptoms.[15715][15716][15717]

Synonyms

• Goldberg syndrome
• Neuraminidase deficiency with beta-galactosidase deficiency
• Lysosomal protective protein deficiency of
• Protective protein/Cathepsin A deficiency
• Cathepsin A deficiency of
• GSL
• Neuraminidase/beta-galactosidase expression
• PPCA deficiency