PMID: 3752068Oct 1, 1986Paper

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

❮ Previous
Next ❯

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

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.