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Test ID PGK1 Phosphoglycerate Kinase Enzyme Activity, Blood


Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not transfer blood to other containers.


Useful For

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern

 

Evaluation of individuals with myopathic or neurologic symptoms

Method Name

Kinetic Spectrophotometry (KS)

Reporting Name

Phosphoglycerate Kinase, B

Specimen Type

Whole Blood ACD-B

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD-B Refrigerated 20 days

Clinical Information

Phosphoglycerate kinase (PGK) is an enzyme that converts 1,3-diphosphoglycerate (1,3-DPG) to 3-phosphoglyceric acid (3-PGA) in one of the adenosine triphosphate (ATP) generating steps in glycolysis. PGK deficiency (OMIM # 300653) is an X-linked disorder with a variable clinical phenotype. Manifestations include hemolytic anemia, myopathy/rhabdomyolysis, or neurologic impairment. Patients can have 1 or 2 systems affected, but rarely have all 3. Clinical severity may not correlate with enzyme activity, and female heterozygotes may possibly be mildly affected.

Reference Values

≥12 months: 142-232 U/g Hb

Reference values have not been established for patients who are less than12 months of age.

Interpretation

In phosphoglycerate kinase (PGK) deficiency, RBC activity levels have been reported ranging from 1% to 49% of mean normal; however, affected patients more typically have values below 20% of normal mean. (1)

Clinical Reference

1. Chiarelli LR, Morera SM, Bianchi P, et al: Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency. PLoS One. 2012;7(2): e32065

2. Valentine WN, Hsieh HS, Paglia DE, et al: Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes: a probable X-chromosome-linked syndrome. N Engl J Med. 1969;280:528-534

3. Beutler E: PGK deficiency. Br J Haematol. 2007 Jan;136(1):3-11

4. 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

Test Classification

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

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PGK1 Phosphoglycerate Kinase, B 44053-7

 

Result ID Test Result Name Result LOINC Value
PGKCL Phosphoglycerate Kinase, B 44053-7

Day(s) Performed

Weekly

Report Available

5 days