Multiple enzyme defects: multiple hydrolases

Mucolipidosis II / III

Chemical Pathology - Enzyme

For the diagnosis of mucolipidosis II / III, a disorder that invovles defects of multiple hydrolases

1. 5 - 10 mL lithium heparin whole blood or

2. Cultured fibroblasts

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

1. 4 to 6 weeks

2. 4 to 6 weeks

I-Cell disease, Inclusion cell disease ML II, ML III, Mucolipidosis type II, Mucolipidosis type III, Pseudo Hurler / Pseudo-Hurler, UDP-N-acetylglucoseamine-1-phosphotransferase

1. Yes

2. Yes