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Test Code PFKC Phosphofructokinase Enzyme Activity, Blood


Specimen Required


Only available as part of a profile. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood


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

Only available as part of a profile. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood

 

Kinetic Spectrophotometry (KS)

Reporting Name

Phosphofructokinase, B

Specimen Type

Whole Blood ACD-B

Specimen Stability Information

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

Reference Values

Only available as part of a profile. For more information see:

-HAEV1 / Hemolytic Anemia Evaluation, Blood

-EEEV1 / Red Blood Cell (RBC) Enzyme Evaluation, Blood

 

≥12 months of age: 5.8-10.9 U/g Hb

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

Interpretation

Clinically significant disorders due to phosphofructokinase (PFK) deficiency are associated with red blood cell activity levels less than 50% of mean normal. Unaffected heterozygous individuals 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;19:517-523

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

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)

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

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(3):388-397

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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.

CPT Code Information

82657

LOINC Code Information

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

 

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

Day(s) Performed

Weekly

Report Available

5 days