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HelpTest 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
Reporting Name
Phosphoglycerate Kinase, BSpecimen Type
Whole Blood ACD-BSpecimen 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 be mildly affected.
Reference Values
≥12 months: 142-232 U/g Hb
Reference values have not been established for patients who are less than 12 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(10):528-534
3. Beutler E: PGK deficiency. Br J Haematol. 2007;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(3):388-397
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 |
|---|---|---|
| PGK1 | Phosphoglycerate Kinase, B | 44053-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| PGKCL | Phosphoglycerate Kinase, B | 44053-7 |
Day(s) Performed
Tuesday, Thursday
Report Available
1 to 6 daysForms
If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.
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