Galactosialidosis

Abstract

Galactosialidosis (GS), a rare lysosomal storage disease (LSD), is caused by congenital defects of a protein called protective protein cathepsin A (PPCA) and secondarily by a deficiency of neuraminidase-1 (Neu-1) and p-galactosidase (P-gal). PPCA is a lysosomal serine carboxypeptidase that functions as a chaperone for Neu-1 and P-GAL to form the lysosomal multi-protein complex (LMC). Depending on the age of onset and severity of clinical symAptoms, GS is categorized into three subgroups: early infantile (EI), late infantile (LI), and juvenile/adult (J/A). GS patients present with symptoms including delays in development, coarse facies, corneal clouding, macular cherry-red spots, hepatosplenomegaly, cardiomegaly, hernias, angiokeratoma, hydrops fetalis or ascites, and foamy cells in bone marrow. This chapter summarizes the disease's classification clinical manifestations, epidemiology, pathophysiology, and available and future treatments options.