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Test Code GSH Glutathione, Blood


Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A)

Specimen Volume: 6 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


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, B

Specimen Type

Whole Blood ACD-B

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
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 younger than 12 months.

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):e102-e105. 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 2nd, Valentine WN, Paglia DE. Glutamyl cysteine synthetase deficiency. A cause of hereditary hemolytic anemia. N Engl J Med. 1972;286(11):557-561

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(1):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 Rochester

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

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 days

Forms

If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.