Acid esterase

LAL deficiency

Chemical Pathology - Enzyme

For the diagnosis of lysosomal acid lipase deficiency (LAL deficiency). Lysosomal acid lipase is deficient in leucocytes, cultured cells and tissues in cases of LAL deficiency – which is a spectrum of diseases ranging from the most severe Wolman disease to the milder cholesteryl ester storage disease. It is also deficient in cultured cells in cases of mucolipidosis II and III

1. 5 - 10 mL lithium heparin whole blood or

2. Cultured fibroblasts or

3. Cultured chorionic villi or

4. 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

1. 4 to 6 weeks

2. 4 to 6 weeks

3. As soon as practically possible

4. As soon as practically possible

Wolman disease, Cholesterol ester storage disease, CESD, Lysosomal acid lipase, LAL, Cholesterol esterase, Acid lipase, Acid esterase

1. Yes

2. Yes

3. Yes

4. Yes