دانلود رایگان مقاله انگلیسی اختلالات اسید آمینه تشخیص داده شده توسط آنالیز کمی HPLC آمینو اسید در تایلند: یک تجربه هشت ساله به همراه ترجمه فارسی
|عنوان فارسی مقاله:||اختلالات اسید آمینه تشخیص داده شده توسط آنالیز کمی HPLC آمینو اسید در تایلند: یک تجربه هشت ساله|
|عنوان انگلیسی مقاله:||Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience|
|رشته های مرتبط:||شیمی، زیست شناسی و پزشکی، بیوشیمی، علوم سلولی و مولکولی، شیمی آلی، شیمی تجزیه، ژنتیک، ژنتیک پزشکی|
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|نشریه||الزویر – Elsevier|
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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.
Amino acids are the primary components of proteins, and they are involved in several cellular metabolic pathways. The inborn errors of amino acid metabolism are a group of genetic disorders in which an enzyme deficiency results in the accumulation of amino acids. Phenylketonuria (PKU) was discovered in 1934 as the first inborn error of amino acid metabolism that resulted in mental retardation . Thereafter, several amino acid disorders have been identified, such as maple syrup urine disease (MSUD), urea cycle defects (UCD), tyrosinemia, homocystinuria, and nonketotic hyperglycinemia (NKH). Clinical presentation of patients with amino acid disorders is often non-specific and suggestive of a variety of non-genetic conditions, which result in underdiagnosis. With the advancement of biochemical methods for detecting amino acids in physiological fluids, amino acid disorders can now be diagnosed and patients can be treated promptly to prevent morbidity and mortality. An amino acid analysis is performed by either ion exchange or high-performance liquid chromatography (HPLC) . At our institute, we have provided metabolic tests, including urine organic acids and plasma amino acids, on patient specimens sent from all over the country. Previously, we have reported Thai patients with organic acid disorders detected by urine gas chromatography/ mass spectrometry (GC/MS) .
۲٫ Materials and methods
Our laboratory received a total of 1214 plasma and cerebrospinal fluid (CSF) specimens of patients with clinical suspicion of IEM from July 2001 to December 2009. The clinical findings of these patients included lethargy, poor feeding, persistent vomiting, intractable seizures, unexplained neurological deficits, developmental delay, recurrent coma, neurodegeneration, unexplained liver dysfunction or cholestasis, skin and hair changes, and ophthalmologic findings suggestive of IEM. The abnormal laboratory findings included persistent/recurrent hypoglycemia, metabolic acidosis with increased anion gap, hyperammonemia, cytopenia, imaging suggestive of IEM, and abnormal newborn screening for PKU. The study was approved by the ethics committee of the Faculty of Medicine Siriraj Hospital, Mahidol University.
۲٫۲٫ Amino acid analyses
The heparinized blood specimens were collected from the patients for plasma amino acid analyses. The CSF specimens were collected at the same time of plasma collection in the cases with suspected NKH. Sample preparation, derivatization, and amino acid separation by HPLC were performed following the protocol described by Svasti et al. . The targeted amino acids included phosphoserine, aspartic acid, glutamic acid, α-aminoadipic acid, hydroxyproline, phosphoethanolamine, serine, asparagine, glycine, glutamine, taurine, histidine, citrulline, threonine, alanine, arginine, proline, α-aminobutyrate, tyrosine, valine, methionine, isoleucine, leucine, phenylalanine, tryptophan, ornithine, and lysine. The results of other metabolic tests including urine organic acids analyzed by GC/MS, plasma homocysteine, and a biopterin assay were also reviewed.