Abstract：
OBJECTIVES:The concentration of tyrosine and the ratio of branch-amino acid to the aromatic amino acid in phenylketonuria (PKU) patients are much lower than that of normal people, which reveal that PKU patients have amino acid metabolism disorder. The aim of the present study was to investigate the arginine level in blood, the expression of argininosuccinate synthetase (ASS), the rate-limiting enzyme in arginine synthesis pathway, and the methylation of ASS in patients with PKU. DESIGN AND METHODS:Twenty-five children with PKU and 65 healthy controls were investigated in this study. Blood concentration of arginine was analyzed by automatic amino acid analyzer. The methylation of ASS gene promoter was evaluated by using methylation-specific polymerase chain reaction (MSP) and bisulfite sequencing PCR (BSP) methods, and the mRNA level of ASS was evaluated by semi-quantitative RT-PCR. RESULTS:Blood concentration of arginine in PKU patients without dietary control was 0.017±0.009mmol/L while in normal persons was 0.129±0.007mmol/L, which is statistically significant (P<0.001). The promoter of ASS was methylated in PKU (15/15, 100%) but not in normal persons (0/15). The mRNA level of ASS in PKU patients was lower than that of normal people, which was well correlated with its methylation status. CONCLUSIONS:The silencing of ASS due to aberrant promoter CpG methylation may be an important mechanism for arginine biosynthesis disorders in PKU. High levels of phenylalanine and low levels of arginine are common characteristics in PKU patients. These findings would extend the current understanding of arginine, ASS in the development of PKU disease.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Li L,Jin C,Ye L,Shao G,Wang L,Lin Mdoi
10.1016/j.clinbiochem.2013.10.028subject
Has Abstractpub_date
2013-12-01 00:00:00pages
1793-7issue
18eissn
0009-9120issn
1873-2933pii
S0009-9120(13)00502-Xjournal_volume
46pub_type
杂志文章abstract：OBJECTIVES:Concentrations of troponin measured with high sensitivity troponin assays are raised in a number of emergency department (ED) patients; however many are not diagnosed with acute myocardial infarction (AMI). Clinical comparisons between the early use (2h after presentation) of high sensitivity cardiac troponi...
journal_title：Clinical biochemistry
pub_type： 杂志文章
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更新日期：2014-04-01 00:00:00
abstract：OBJECTIVE:To investigate unusual free thyroxine (FT4) responses to T4 replacement doses in a hypothyroid patient with familial dysalbuminemic hyperthyroxinemia (FDH). METHODS:In this FDH hypothyroid patient, serum FT4 concentration by equilibrium dialysis and T4, triiodothyronine (T3), and thyroid stimulating hormone ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
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更新日期：1996-02-01 00:00:00
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journal_title：Clinical biochemistry
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doi：10.1016/j.clinbiochem.2015.08.005
更新日期：2015-11-01 00:00:00
abstract：:The purpose of this report is to evaluate whether a new, simple, non-invasive method for chymotrypsin measurement in stools is useful for the diagnosis of exocrine pancreatic insufficiency in cystic fibrosis (CF). A hundred children aged from 2 months to 12 years were tested: 50 children had been admitted for chronic ...
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pub_type： 杂志文章
doi：10.1016/s0009-9120(85)80046-1
更新日期：1985-08-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.01.010
更新日期：2007-06-01 00:00:00
abstract：INTRODUCTION:The avoidance of repeat chemistry testing such as Complete Blood Count (CBC) and Electrolyte Panel (EP) on clinically stable patients was identified as important utilization goals by Choosing Wisely Canada. The purpose of this study was to assess the volume of overutilization of CBC and EP in an inpatient ...
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更新日期：2020-03-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.09.016
更新日期：2008-01-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2019.05.016
更新日期：2019-08-01 00:00:00
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journal_title：Clinical biochemistry
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更新日期：2016-12-01 00:00:00
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journal_title：Clinical biochemistry
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doi：10.1016/j.clinbiochem.2015.04.014
更新日期：2015-11-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2006.01.015
更新日期：2006-03-01 00:00:00
abstract：:A simple method for the determination of triodothyronine (T3) uptake using I125-T3 and dextran coated charcoal is described. This reaction is time dependent after the addition of dextran coated charcoal. Effect of temperature, concentrations of I125-T3 and charcoal are reported. Within-run precision has been estimated...
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pub_type： 杂志文章
doi：10.1016/s0009-9120(76)80009-4
更新日期：1976-02-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0009-9120(80)90562-7
更新日期：1980-02-01 00:00:00
abstract：:An early diagnosis is crucial for effective triage and management of patients with suspected acute myocardial infarction (AMI). Although troponin testing is the cornerstone of diagnosis, the sensitivity of this biomarker is still suboptimal at patient admission. The heart-type fatty acid binding protein (H-FABP) is an...
journal_title：Clinical biochemistry
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.clinbiochem.2012.10.016
更新日期：2013-01-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.02.001
更新日期：2009-05-01 00:00:00
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pub_type： 杂志文章,评审
doi：10.1016/0009-9120(94)00075-7
更新日期：1995-06-01 00:00:00
abstract：OBJECTIVES:Recurrent miscarriage (RM) is a challenging medical problem because of its unknown pathogenesis and etiology in most of the cases. Recent studies suggest the role of persistent environmental pollutants such as organochlorine pesticides (OCPs) in the etiology of RM. The present study was conducted to investig...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.09.019
更新日期：2010-01-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.08.001
更新日期：2015-12-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2008.04.005
更新日期：2008-07-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
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更新日期：1995-08-01 00:00:00
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doi：10.1016/j.clinbiochem.2007.09.006
更新日期：2008-01-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.08.014
更新日期：2008-02-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(00)00079-5
更新日期：2000-06-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.04.008
更新日期：2005-09-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2013.05.063
更新日期：2013-10-01 00:00:00
abstract：OBJECTIVES:We investigated the relationships of biomarkers of various pathophysiologic pathways including high-sensitivity C-reactive protein (hs-CRP), lipocalin-2 (LCN2), myeloperoxidase (MPO) and matrix metalloproteinases 9 (MMP9) with mortality in stroke patients. DESIGN AND METHODS:hs-CRP, LCN2 and MPO concentrati...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2012.06.014
更新日期：2012-11-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.08.004
更新日期：2005-11-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2016.02.012
更新日期：2016-07-01 00:00:00
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journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.09.013
更新日期：2006-01-01 00:00:00
abstract：:Plasminogen activators (PAs) are specific proteolytic enzymes which convert the inactive proenzyme plasminogen to plasmin. The plasmin formed is a potent and nonspecific protease which cleaves blood fibrin clots and several other extracellular proteins. In addition to their primary role in the initiation of fibrinolys...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/0009-9120(90)90601-p
更新日期：1990-06-01 00:00:00
