Multiple enzyme defects: Galactosialidosis (α-neuraminidase / β-galactosidase)

Galactosialidosis

Chemical Pathology - Enzyme

For the diagnosis of galactosialidosis (deficiency of the lysosomal enzymes α-neuraminidase and β-galactosidase)

1. 5 - 10 mL lithium heparin whole blood or

2. Cultured fibroblasts or

3. Chorionic villi or

4. Cultured chorionic villi or

5. Cultured amniotic cells

1. Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

2. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours

3 Contact the Enzyme Laboratory PRIOR to sampling and shipping

4. Contact the Enzyme Laboratory PRIOR to sampling and shipping

5. Contact the Enzyme Laboratory PRIOR to sampling and shipping

1. 4 to 6 weeks

2. 4 to 6 weeks

3. As soon as practically possible

4. As soon as practically possible

5. As soon as practically possible

Galactosialidosis, Neuraminidase deficiency with β-galactosidase deficiency, Cathepsin A deficiency, Goldberg syndrome

1. Yes

2. Yes

3. Yes

4. Yes

5. Yes