6-phosphofructokinase

GSD VII

Chemical Pathology - Enzyme

For diagnosis of glycogen storage disease type VII (also known as Tarui disease, phosphofructokinase deficiency)

1. 5 - 10 mL lithium heparin whole blood or

2. Muscle biopsy or

3. Liver 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

Tarui disease, Phosphofructokinase deficiency

1. No

2. Yes

3. Yes