{"title":"Molecular diagnosis of urea cycle disorders: current global scenario.","authors":"K Vaidyanathan","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":13281,"journal":{"name":"Indian journal of biochemistry & biophysics","volume":"50 5","pages":"357-62"},"PeriodicalIF":1.5000,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian journal of biochemistry & biophysics","FirstCategoryId":"99","ListUrlMain":"","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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Started in 1964, this journal publishes original research articles in the following areas: structure-function relationships of biomolecules; biomolecular recognition, protein-protein and protein-DNA interactions; gene-cloning, genetic engineering, genome analysis, gene targeting, gene expression, vectors, gene therapy; drug targeting, drug design; molecular basis of genetic diseases; conformational studies, computer simulation, novel DNA structures and their biological implications, protein folding; enzymes structure, catalytic mechanisms, regulation; membrane biochemistry, transport, ion channels, signal transduction, cell-cell communication, glycobiology; receptors, antigen-antibody binding, neurochemistry, ageing, apoptosis, cell cycle control; hormones, growth factors; oncogenes, host-virus interactions, viral assembly and structure; intermediary metabolism, molecular basis of disease processes, vitamins, coenzymes, carrier proteins, toxicology; plant and microbial biochemistry; surface forces, micelles and microemulsions, colloids, electrical phenomena, etc. in biological systems. Solicited peer reviewed articles on contemporary Themes and Methods in Biochemistry and Biophysics form an important feature of IJBB.
Review articles on a current topic in the above fields are also considered. They must dwell more on research work done during the last couple of years in the field and authors should integrate their own work with that of others with acumen and authenticity, mere compilation of references by a third party is discouraged. While IJBB strongly promotes innovative novel research works for publication as full length papers, it also considers research data emanating from limited objectives, and extension of ongoing experimental works as ‘Notes’. IJBB follows “Double Blind Review process” where author names, affiliations and other correspondence details are removed to ensure fare evaluation. At the same time, reviewer names are not disclosed to authors.
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