Diagnostic testing: A direct assay system for protective protein/cathepsin A is available for prenatal
diagnosis of galactosialidosis. After birth, the diagnosis is confirmed by reduced
or absent beta-galactosidase enzymatic activity in white blood cells or in cultured
skin fibroblasts. Urine tests may show excessive amounts of bound sialic acid and
oligosaccharides (partially broken down sugars).
Physical findings: Physical findings for this conditions include:
• Distinctive facial features (short nose, flat face, large head, bulging forehead);
• Umbilical or inguinal hernia;
• Retinal cherry red spot;
• Dysostosis multiplex;
• Vertebral deformities;
• Enlarged liver and spleen (hepatosplenomegaly);
• Enlarged heart (cardiomegaly);
• Action myoclonus (abrupt spasms);
• Poor growth/short stature; and
• Developmental delays or intellectual disability.