Test Code GSH Glutathione, Blood
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Specimen Volume: 6 mL
Collection Instructions: Send whole blood specimen in original tube. Do not transfer blood to other containers.
Useful For
Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice
Evaluation for gamma-glutamylcysteine synthetase deficiency
Evaluation for glutathione synthetase deficiency causing hemolytic anemia
Evaluation for generalized glutathione synthetase deficiency with 5-oxoprolinuria
Method Name
Kinetic Spectrophotometry (KS)
Reporting Name
Glutathione, 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 |
Reference Values
≥12 months: 46.9-90.1 mg/dL RBC
Reference values have not been established for patients who are younger12 months of age.
Interpretation
Measurement of reduced glutathione (GSH) is used as a surrogate for the activity of the enzymes that contribute to normal levels of GSH within the red blood cell. GSH is associated with less than 25% of mean normal in individuals with deficiencies of gamma-glutamyl cysteine synthetase or glutathione synthetase.
Elevated concentrations of GSH are of uncertain significance. This finding can be nonspecific and is seen in normal neonates, pyrimidine-5’-nucleotidase deficiency, lead poisoning, dyserythropoietic disorders (inherited and acquired), myelofibrosis (possibly due to chromosome 8 duplication), or riboflavin supplementation. Consistently elevated glutathione levels have been reported in a family with mild hemolytic anemia of uncertain cause (1); however, whether this was causative or incidental was not determined.
Clinical Reference
1. Valentine WN, Paglia DE: Syndromes with increased red cell glutathione (GSH). Hemoglobin. 1980;4(5-6):799-804. doi:10.3109/03630268008997748
2. Manu Pereira M, Gelbart T, Ristoff E, et al. Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin. Haematologica. 2007;92(11). doi:10.3324/haematol.11238
3. Ristoff E, Mayatepek E, Larsson A. Long-term clinical outcome in patients with glutathione synthetase deficiency. J Pediatr. 2001;139(1):79-84. doi:10.1067/mpd.2001.114480
4. Konrad PN, Richards F, Valentin WN, et al. Gamma glutamyl cysteine synthetase deficiency. N Engl J Med. 1972;286:557
5. Mehta A, Mason PJ, Vulliamy TJ. Glucose-6-phosphate dehydrogenase deficiency. Baillieres Best Pract Res Clin Haematol. 2000;13(1):21-38
6. Beutler E, Dunning D, Dabe IB, Forman L. Erythrocyte glutathione S-transferase deficiency and hemolytic anemia. Blood. 1988;72:73-77
7. Kamerbeek NM, van Zwieten R, de Boer M, et al. Molecular basis of glutathione reductase deficiency in human blood cells. Blood. 2007;109(8):3560-3566. doi:10.1182/blood-2006-08-042531
8. Tomoda A, Noble NA, Lachant NA, Tanaka KR. Hemolytic anemia in hereditary pyrimidine 5'-nucleotidase deficiency: nucleotide inhibition of G6PD and the pentose phosphate shunt. Blood. 1982;60(5):1212-1218
9. 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
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
82978
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
GSH | Glutathione, B | 2383-8 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
608409 | Glutathione, B | 2383-8 |
Day(s) Performed
Monday through Friday
Report Available
10 to 13 daysForms
If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.