Phosphoglucomutase

GSD XIV / CDG PGM

Chemical Pathology - Enzyme

For the diagnosis of glycogen storage disease type XIV, where there is a deficiency of muscle phosphoglucomutase

1. 5 - 10 mL lithium heparin whole blood or

2. Liver biopsy or

3. Muscle biopsy

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

2. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

3. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

1. 4 to 6 weeks

2. 4 to 6 weeks

3. 4 to 6 weeks

GSD XIV, GSD type XIV, GSD14

1. Yes

2. Yes

3. Yes