Test Code AKC Adenylate Kinase 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
Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia
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
Adenylate Kinase, BSpecimen Type
Whole Blood ACD-BSpecimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole Blood ACD-B | Refrigerated | 20 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: 195-276 U/g Hb
Reference values have not been established for patients who are younger than 12 months of age.
Interpretation
In adenylate kinase deficiency, values are expected to be less than 30% of normal mean, although this value should be interpreted in the context of age of the patient and other enzyme values.
Clinical Reference
1. Niizuma H, Kanno H, Sato A, Ogura H, Imaizumi M: Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency. Pediatr Int. 2017;59(2):228-230
2. Rapley S, Harris H. Red cell adenylate kinase activity in AK1 and AK 2-1 phenotypes. Annals of Human Genetics. 1970;33:361-364. doi:10.1111/j.1469-1809
3. Mohrenweiser HW. Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981;78(8):5046-5050
4. Corrons JL, Garcia E, Tusell JJ, Varughese KI, West C, Beutler E. Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia. Blood. 2003;102(1):353-356
5. Toren A., Brok-Simoni F, Ben-Bassat I, et al. Congenital haemolytic anaemia associated with adenylate kinase deficiency. Brit. J. Haemat. 1994;87:376-380
6. Bianchi P, Zappa M, Bredi E, et al. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (arg107-to-stop, CGA-to-TGA) associated with chronic haemolytic anaemia. Brit. J. Haemat. 1999;105(1):75-79
7. Lachant NA, Zerez CR, Barredo J, et al. Hereditary erythrocyte adenylate kinase deficiency: A defect of multiple phosphotransferases? Blood. 1991;77(12):2774-2784
8. 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
Performing Laboratory
Mayo Clinic Laboratories in RochesterTest 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 |
---|---|---|
AKC | Adenylate Kinase, B | 44051-1 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
AKCL | Adenylate Kinase, B | 44051-1 |
Day(s) Performed
Monday through Friday