Sign in →

Order Code PFK1 Phosphofructokinase Enzyme Activity, Blood


Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA) or yellow top (ACD solution A)

Specimen Volume: 6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.


Useful For

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia

 

Evaluation of individuals with exercise intolerance or myopathy

 

Genetic studies in families with phosphofructokinase deficiency

Method Name

Kinetic Spectrophotometry

Reporting Name

Phosphofructokinase, B

Specimen Type

Whole Blood ACD-B

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD-B Refrigerated 11 days

Reject Due To

Gross hemolysis Reject
Fully clotted Reject

Reference Values

≥12 months of age: 5.8-10.9 U/g Hb

Reference values have not been established for patients younger than 12 months.

Method Description

Phosphofructokinase (PFK) catalyzes the phosphorylation of fructose-6-phosphate by adenosine triphosphate (ATP) to fructose-1,6-diphosphate (F1,6-diP). F1,6-diP is then converted to dihydroxyacetone phosphate (DHAP) through subsequent aldolase and triosephosphate isomerase catalyzed reactions. The rate of formation of DHAP is measured by linking its reduction to alpha-glycerophosphate by alpha-glycerophosphate dehydrogenase, which results in the oxidation of reduced nicotinamide adenine dinucleotide (NADH) to NAD(+). The decrease in absorbance at 340 nm is measured spectrophotometrically as the NADH is oxidized on an automated chemistry analyzer.(Beutler E. Red cell metabolism. A Manual of Biochemical Methods. 3rd ed. Grune and Stratton; 1984: 68-71; van Solinge WW, van Wijk. Enzymes of the red blood cell. In: Rifai N, Horvath AR, Wittwer CT, eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 6th ed. Elsevier; 2018:chap 30)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

Day(s) Performed

Tuesday, Thursday

Forms

If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.