Galactosialidosis

A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

Also known as: Goldberg syndrome, galactosialidosis, neuraminidase deficiency with beta-galactosidase deficiency, GSL, PPCA deficiency, cathepsin A deficiency, cathepsin A deficiency of, lysosomal protective Protein deficiency

2 clinical trials for this condition and its sub-types.