Genetic and Biochemical Consequences of Adenosine Deaminase Deficiency in Humans.
Indian J Biochem Biophys
;
2013 Oct; 50(5): 345-356
Artigo
em Inglês
| IMSEAR
| ID: sea-150244
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Adenosina Desaminase
/
Heterogeneidade Genética
/
Doenças Metabólicas
Idioma:
Inglês
Revista:
Indian J Biochem Biophys
Ano de publicação:
2013
Tipo de documento:
Artigo
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