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Test ID: 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

Clinical Information

Phosphofructokinase (PFK) is the third enzyme in glycolysis. It converts fructose-6-phosphate to fructose 1,6-diphosphate. PFK deficiency, also called glycogen storage disease, type VII or Tarui disease (OMIM 232800), is a rare hereditary autosomal recessive disorder that is typically noticed in childhood. Different clinical subtypes (classical, late-onset, infantile and hemolytic) have been described. Manifestations can vary, including exercise intolerance, exertional myopathy, nausea, stiffness, and myoglobinuria. Although not classically described, a second-wind effect is noticed by some patients.(1) A subset of individuals have compensated (high normal hemoglobin values) or mild hemolytic anemia, episodic jaundice, hyperuricemia, or gout-like symptoms. No distinctive morphologic abnormalities are seen on the peripheral blood smear. Red blood cell PFK activity is typically partially decreased (30%-50% mean normal) and muscle biopsy PFK activity is markedly decreased.

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.

Interpretation

Clinically significant disorders due to phosphofructokinase deficiency are associated with red blood cell activity levels less than 50% of mean normal. Unaffected heterozygotes have been reported with levels of 63% of normal. Therefore, genetic correlation will often be important in ambiguous cases.

Clinical Reference

1. Sherman JB, Raben N, Nicastri C, et al. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. Am J Hum Genet. 1994;55(2):305-313

2. Tarui S, Okuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M. Phosphofructokinase deficiency in a skeletal muscle. A new type of glycogenosis. Biochem Biophys Res Commun. 1965;19:517-23. doi:10.1016/0006-291x(65)90156-7

3. Musumeci O, Bruno C, Mongini T, et al. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord. 2012;22(4):325-330

4. Nakajima H, Raben N, Hamaguchi T, Yamasaki T. Phosphofructokinase deficiency; past, present and future. Curr Mol Med. 2002;2(2):197-212. doi:10.2174/1566524024605734

5. Auranen M, Palmio J, Ylikallio E, et al: PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. Neurol Genet. 2015;1(1):e7. doi:10.1212/NXG.0000000000000007

6. Raben N, Sherman JB. Mutations in muscle phosphofructokinase gene. Hum Mutat. 1995;6(1):1-6. doi:10.1002/humu.1380060102

7. Koralkova P, van Solinge WW, van Wijk R. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia-pathophysiology, clinical aspects and laboratory diagnosis. Int J Lab Hematol. 2014;36:388-397. doi:10.1111/ijlh.12223

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PFK1 Phosphofructokinase, B 72664-6

 

Result ID Test Result Name Result LOINC Value
PFKCL Phosphofructokinase, B 72664-6

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

Day(s) Performed

Tuesday, Thursday

Report Available

1 to 6 days

Forms

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

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

mml-benign-hematology-disorders