Fructose-1,6 bisphosphatase

Fructose-1,6-bisphosphatase deficiency

Chemical Pathology - Enzyme

For the diagnosis of fructose-1,6-bisphosphatase deficiency, one of the known diseases of fuctose metabolism

1. 5 - 10 mL lithium heparin whole blood or

2. 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

1. 4 to 6 weeks

2. 4 to 6 weeks

FBP'ase, Hereditary fructose-1,6-bisphosphatase deficiency

1. Yes

2. Yes