Abstract

Galactosialidosis is a lysosomal storage disease.This condition is rare and most cases have been in the juvenile/adult group of patients. An infantile form has been described.

Molecular biology

It is associated with cathepsin A.This disease is due to mutations in the CTSA gene which encodes the protective protein/cathepsin A (PPCA). This in turn leads to a secondary deficiency of beta-galactosidase (GLB1) and neuraminidase 1 (NEU1).There are three distinct CTSA isoforms.

Diagnosis

A prenatal diagnosis was made by Kleijer et al. in 1979 by measuring beta-galactosidase and neuraminidase activities in cultured amniotic fluid cells.