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Molecular Diagnosis of Urea Cycle Disorders: Current Global Scenario

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Title Molecular Diagnosis of Urea Cycle Disorders: Current Global Scenario
 
Creator Vaidyanathan, K
 
Subject Arginase deficiency
Citrullinemia
Carbamoyl phosphate synthetase I deficiency
Hyperammonemia
Molecular diagnosis
Ornithine trans carbamoylase deficiency
Urea cycle disorders
 
Description 357-362
Urea cycle disorders are a group of inborn
error of metabolism, characterized by hyperammonemia, metabolic alkalosis and
clinical features of encephalopathy. These are among the commonest types of
inborn errors of metabolism with a frequency of 1 in 8,000 to 1 in 30,000 in
different population. This encompasses 5 major disorders, corresponding with
deficiency of each step in the urea cycle, namely ornithine transcarbamoylase
(OTC) deficiency, argininosuccinate lyase (ASL) deficiency, carbamoyl phosphate
synthetase (CPS) deficiency, citrullinemia and argininemia. The most important
clinical presentation is neurological abnormalities. The severity of UCD is
correlated to extent of hyperammonemia. Early diagnosis and treatment are
essential for successful patient outcome. Various modalities of treatment have
been recommended; namely, treatment aimed at reducing ammonia level, including
drugs like sodium benzoate and sodium phenyl butyrate, neuroprotective
strategies, low protein diet, liver transplantation and hepatocyte transplantation.
Molecular diagnosis is important to identify the pathogenesis of these
disorders as well as it helps in prognosis. This review intends to summarize
the important aspects of molecular diagnostic studies on urea cycle disorders.
 
Date 2013-10-26T10:05:50Z
2013-10-26T10:05:50Z
2013-10
 
Type Article
 
Identifier 0975-0959 (Online); 0301-1208 (Print)
http://hdl.handle.net/123456789/22653
 
Language en_US
 
Rights CC Attribution-Noncommercial-No Derivative Works 2.5 India
 
Publisher NISCAIR-CSIR, India
 
Source IJBB Vol.50(5) [October 2013]