Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern
Evaluation of individuals with myopathic or neurologic symptoms
Kinetic Spectrophotometry
PGK
Phosphoglycerol Kinase, Blood
Phosphoglycerol Kinase, RBC
Whole Blood ACD-B
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.
If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.
1 mL
Gross hemolysis | Reject |
Fully clotted | Reject |
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood ACD-B | Refrigerated | 20 days |
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern
Evaluation of individuals with myopathic or neurologic symptoms
Phosphoglycerate kinase (PGK) is an enzyme that converts 1,3-diphosphoglycerate to 3-phosphoglyceric acid in one of the adenosine triphosphate 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 heterozygous individuals may be mildly affected.
> or =12 months: 142-232 U/g Hb
Reference values have not been established for patients younger than 12 months.
In phosphoglycerate kinase deficiency, red blood cell 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)
Recent transfusion may mask the patient's intrinsic enzyme activity and cause unreliable results.
Some enzyme deficiency disorders can be masked by reticulocytosis, and comparison of activities of other red blood cell enzyme activities in this panel may be useful.
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
Phosphoglycerate kinase catalyzes the phosphorylation of adenosine diphosphate (ADP) to adenosine triphosphate (ATP) by conversion of 1,3-diphosphoglycerate (1,3-DPG) to 3-phosphoglyceric acid. In this assay, the reaction is driven in the reverse direction. The formation of 1,3-DPG is then measured through the glyceraldehyde phosphate dehydrogenase reaction as 1,3-DPG is converted to glyceraldehyde-3-phosphate resulting in the oxidation of reduced nicotinamide adenine dinucleotide (NADH) to NAD(+). The decrease in absorbance which occurs as NADH is oxidized is measured spectrophotometrically at 340 nm on an automated chemistry analyzer.(Beutler E. Red Cell Metabolism: A Manual of Biochemical Methods. 3rd ed. Grune and Stratton; 1984:40-42; 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)
Tuesday, Thursday
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.
82657
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
PGK1 | Phosphoglycerate Kinase, B | 44053-7 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
PGKCL | Phosphoglycerate Kinase, B | 44053-7 |