PMID: 3752068Oct 1, 1986

Comparative activity of erythrocyte adenosine deaminase and orotidine decarboxylase in Diamond-Blackfan anemia

American Journal of Hematology
B E Glader, K Backer

Abstract

It previously has been reported that red blood cells (RBC) of patients with Diamond-Blackfan syndrome (DBS) have increased activity of orotidine decarboxylase (ODC) and adenosine deaminase (ADA). The studies reported here compared the activity of these two enzymes in DBS erythrocytes, cord blood, and reticulocytes. The activity of ODC, although increased in some DBS erythrocytes, was not significantly different from that seen in cord RBC or reticulocytes. In contrast, RBC-ADA activity was increased in 23 of 26 DBS patients; and this enzyme elevation was distinct from that seen in cord blood and reticulocytes. Moreover, ADA activity was normal in 26 of 27 patients with transient erythroblastopenia of childhood (TEC). Taken together, these data indicate RBC-ADA activity is more sensitive than ODC as a marker of DBS. In addition, RBC-ADA activity continues to be useful for distinguishing DBS and TEC in most patients with RBC hypoplasia.

References

May 1, 1969·Annals of Human Genetics·D A HopkinsonH Harris
Dec 15, 1984·Lancet·D B WhitehouseD I Evans
Dec 15, 1983·The New England Journal of Medicine·B E GladerL K DIAMOND
Sep 1, 1961·American Journal of Diseases of Children·L K DIAMONDF B MAGILL

Citations

Oct 7, 2000·Paediatric Drugs·I DianzaniU Ramenghi
Oct 13, 2000·Baillière's Best Practice & Research. Clinical Haematology·M H Freedman
Mar 29, 2014·Expert Review of Hematology·Adrianna VlachosJeffrey M Lipton

Related Concepts

Adenosine Deaminase
Hypoplastic Anemia
Carboxy-Lyases
Erythrocytes
Umbilical Cord Blood
Nucleoside Deaminases
OROTIDINE-5'-PHOSPHATE Decarboxylase

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