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Genetic and Biochemical Consequences of Adenosine Deaminase Deficiency in Humans

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Title Genetic and Biochemical Consequences of Adenosine Deaminase Deficiency in Humans
 
Creator Bose, Rahul
Nandagopal, Krishnadas
 
Subject Adenosine deaminase deficiency
Aminohydrolase
Allelic heterogeneity
Prenatal diagnosis
Severe combined immunodeficiency
 
Description 345-356
Adenosine deaminase deficiency accounts for
~15-20% of severe combined immunodeficiency in humans. The gene for adenosine
deaminase is located on chromosome 20q12-q13.11 and codes for an aminohydrolase
that catalyzes the deamination of adenosine and deoxyadenosine to inosine and
deoxyinosine, respectively. Absence of the enzyme causes a build-up of the
substrates in addition to excess deoxyadenosine triphosphate, thereby
compromising the regenerative capacity of the immune system. Due to underlying
allelic heterogeneity, the disorder manifests as a spectrum, ranging from
neonatal onset severe combined immunodeficiency to apparently normal partial
adenosine deaminase deficiency. Tandem mass spectrometry coupled with high
efficiency separation systems enables postnatal diagnosis of the disorder,
while prenatal diagnosis relies on assaying
enzyme activity in cultured amniotic fibroblasts or chorionic villi sampling.
Screening of adenosine deaminase deficiency for relatives-at-risk may reduce
costs of treatment and ensure timely medical intervention as applicable. This
article reviews the genetic, biochemical and clinical aspects of adenosine
deaminase deficiency.
 
Date 2013-10-26T10:04:59Z
2013-10-26T10:04:59Z
2013-10
 
Type Article
 
Identifier 0975-0959 (Online); 0301-1208 (Print)
http://hdl.handle.net/123456789/22652
 
Language en_US
 
Rights CC Attribution-Noncommercial-No Derivative Works 2.5 India
 
Publisher NISCAIR-CSIR, India
 
Source IJBB Vol.50(5) [October 2013]