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Title: Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience
Authors: Nithiwat Vatanavicharn
Pisanu Ratanarak
Somporn Liammongkolkul
Achara Sathienkijkanchai
Pornswan Wasant
Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 11-Jul-2012
Citation: Clinica Chimica Acta. Vol.413, No.13-14 (2012), 1141-1144
Abstract: Background: Amino acid disorders are a major group of inborn errors of metabolism (IEM) with variable clinical presentations. This study was aimed to provide the data of amino acid disorders detected in high-risk Thai patients referred to our metabolic lab from all over the country. Methods: From 2001 to 2009, we analyzed amino acids by HPLC in 1214 plasma and cerebrospinal fluid specimens. These specimens were obtained from patients with clinical suspicion of IEM or with positive newborn screening. The clinical data of the patients with confirmed diagnoses of amino acid disorders were also analyzed. Results: Fifty-eight patients were diagnosed with amino acid disorders, including 20 cases (34.5%) with maple syrup urine disease, 13 (22.4%) with phenylketonuria and hyperphenylalaninemia, 13 (22.4%) with nonketotic hyperglycinemia, 9 (15.5%) with urea cycle defects, 2 (3.4%) with classical homocystinuria, and 1 (1.7%) with ornithine aminotransferase deficiency. There was considerable delay in diagnoses which led to poor outcomes in most patients. Conclusion: The prevalence of amino acid disorders in Thailand is distinct from other countries. This will guide the selection of the prevalent IEM for the future expansion of newborn screening program in this country. © 2012 Elsevier B.V.
ISSN: 18733492
Appears in Collections:Scopus 2011-2015

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