U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal erythrocyte adenosine deaminase activity

MedGen UID:
1052127
•Concept ID:
CN375680
•
Finding
HPO: HP:4000209

Definition

Activity of adenosine deaminase in red blood cells outside the limits of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal erythrocyte adenosine deaminase activity

Professional guidelines

PubMed

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854

Recent clinical studies

Etiology

Elevated adenosine signaling via adenosine A2B receptor induces normal and sickle erythrocyte sphingosine kinase 1 activity.
Sun K, Zhang Y, Bogdanov MV, Wu H, Song A, Li J, Dowhan W, Idowu M, Juneja HS, Molina JG, Blackburn MR, Kellems RE, Xia Y
Blood 2015 Mar 5;125(10):1643-52. Epub 2015 Jan 13 doi: 10.1182/blood-2014-08-595751. PMID: 25587035Free PMC Article

Diagnosis

Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.
Simmonds HA, Fairbanks LD, Morris GS, Webster DR, Harley EH
Clin Chim Acta 1988 Feb 15;171(2-3):197-210. doi: 10.1016/0009-8981(88)90145-3. PMID: 3370820
Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases.
Glader BE, Backer K
Br J Haematol 1988 Feb;68(2):165-8. doi: 10.1111/j.1365-2141.1988.tb06184.x. PMID: 3348976
Increased erythrocyte adenosine deaminase activity without haemolytic anaemia.
Novelli G, Stocchi V, Giannotti A, Magnani M, Dallapiccola B
Hum Hered 1986;36(1):37-40. doi: 10.1159/000153597. PMID: 3949358
Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.
Hirschhorn R, Ellenbogen A
Am J Hum Genet 1986 Jan;38(1):13-25. PMID: 3946419Free PMC Article
Adenosine deaminase activity in patients with carcinoma of the bladder.
Sufrin G, Tritsch GL, Mittelman A, Murphy GP
J Urol 1978 Mar;119(3):343-6. doi: 10.1016/s0022-5347(17)57486-8. PMID: 642089

Therapy

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854
Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy.
Hutton JJ, Wiginton DA, Coleman MS, Fuller SA, Limouze S, Lampkin BC
J Clin Invest 1981 Aug;68(2):413-21. doi: 10.1172/jci110270. PMID: 7263861Free PMC Article

Prognosis

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.
Halperin DS, Freedman MH
Am J Pediatr Hematol Oncol 1989 Winter;11(4):380-94. PMID: 2694854
Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.
Simmonds HA, Fairbanks LD, Morris GS, Webster DR, Harley EH
Clin Chim Acta 1988 Feb 15;171(2-3):197-210. doi: 10.1016/0009-8981(88)90145-3. PMID: 3370820
Enzymes of purine metabolism in B-chronic lymphocytic leukemia.
Vertongen F, Cauchie C, Courtois P, Fondu P, Mandelbaum IM
Am J Hematol 1984 Jul;17(1):61-70. doi: 10.1002/ajh.2830170108. PMID: 6331155
Adenosine deaminase activity in patients with carcinoma of the bladder.
Sufrin G, Tritsch GL, Mittelman A, Murphy GP
J Urol 1978 Mar;119(3):343-6. doi: 10.1016/s0022-5347(17)57486-8. PMID: 642089

Clinical prediction guides

Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.
Simmonds HA, Fairbanks LD, Morris GS, Webster DR, Harley EH
Clin Chim Acta 1988 Feb 15;171(2-3):197-210. doi: 10.1016/0009-8981(88)90145-3. PMID: 3370820
Increased erythrocyte adenosine deaminase activity without haemolytic anaemia.
Novelli G, Stocchi V, Giannotti A, Magnani M, Dallapiccola B
Hum Hered 1986;36(1):37-40. doi: 10.1159/000153597. PMID: 3949358
Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia.
Glader BE, Backer K, Diamond LK
N Engl J Med 1983 Dec 15;309(24):1486-90. doi: 10.1056/NEJM198312153092404. PMID: 6646173
The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity.
Takeuchi F, Hanaoka F, Yano E, Yamada M, Horiuchi Y, Akaoka I
Hum Genet 1981;58(3):322-30. doi: 10.1007/BF00294932. PMID: 6276287
Adenosine deaminase activity in peripheral blood cells of patients with haematological malignancies.
Meier J, Coleman MS, Hutton JJ
Br J Cancer 1976 Mar;33(3):312-9. doi: 10.1038/bjc.1976.45. PMID: 1063590Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...