Database : MEDLINE
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[PMID]: 29423830
[Au] Autor:Waisbren SE; Cuthbertson D; Burgard P; Holbert A; McCarter R; Cederbaum S; Members of the Urea Cycle Disorders Consortium
[Ad] Address:Division of Genetics and Genomics, Boston Children's Hospital and Department of Medicine, Harvard Medical School, 1 Autumn Street #525, Boston, MA, 02115, USA. Susan.waisbren@childrens.harvard.edu.
[Ti] Title:Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
[So] Source:J Inherit Metab Dis;, 2018 Feb 08.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychological testing. This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints in three distal disorders, argininosuccinic acid synthetase deficiency (ASD or citrullinemia type I), argininosuccinic acid lyase deficiency (ASA or ALD), and arginase deficiency (ARGD). Laboratory results and test scores from neuropsychological evaluations were assessed in 145 study participants, ages 3 years and older, with ASD (n = 64), ASA (n = 65) and ARGD (n = 16). Mean full scale IQ was below the population mean of 100 ± 15 for all groups: (ASD = 79 ± 24; ASA = 71 ± 21; ARGD = 65 ± 19). The greatest deficits were noted in visual performance and motor skills for all groups. While ammonia levels remain prominent as prognostic biomarkers, other biomarkers may be equally valuable as correlates of neuropsychological functioning. Cumulative exposure to the biomarkers included in the study proved to be highly sensitive indicators of neuropsychological outcomes, even when below the cut-off levels generally considered toxic. Blood levels of biomarkers obtained on the day of neuropsychological evaluations were not correlated with measures of functioning for any disorder in any domain. The importance of cumulative exposure supports early identification and confirms the need for well-controlled management of all biochemical abnormalities (and not just ammonia) that occur in urea cycle disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:Publisher
[do] DOI:10.1007/s10545-017-0132-5

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[PMID]: 28741715
[Au] Autor:Kose E; Kuyum P; Aksoy B; Häberle J; Arslan N; Ozturk Y
[Ad] Address:Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University, Izmir, Turkey.
[Ti] Title:First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
[So] Source:J Clin Pharm Ther;43(1):124-128, 2018 Feb.
[Is] ISSN:1365-2710
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:WHAT IS KNOWN AND OBJECTIVE: Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase 1 deficiency. CASE DESCRIPTION: A male newborn was diagnosed with citrullinemia after serum amino acid analyses revealed markedly elevated citrulline concentration together with homozygous p.Gly390Arg mutation in ASS1 gene. The ammonia concentration decreased and blood gas analysis normalized after peritoneal dialysis was performed for three days. Also, sodium benzoate, L-arginine and parenteral nutrition with glucose and lipid therapy were initiated. Until 1 year of age, low adherence to sodium benzoate therapy due to unpleasant taste caused hyperammonaemic episodes and obligated us to initiate carglumic acid (100 mg/kg/day) therapy. During treatment with carglumic acid, the median ammonia level was 45.6 µmol/L. The patient's treatment was switched from carglumic acid to sodium phenylbutyrate when he was 4.5 years old. Currently, the patient is 6.5 years old and remains under follow-up with sodium phenylbutyrate, L-arginine and protein-restricted diet. Plasma ornithine level was found to be significantly lower during the carglumic acid treatment compared to other treatments (P=.039). Also, glutamic acid was found to be higher during the sodium benzoate treatment period compared to other treatment periods (P=.024). WHAT IS NEW AND CONCLUSION: To the best of our knowledge, this is the first report describing the long-term use of carglumic acid in a patient with argininosuccinate synthetase deficiency.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1707
[Cu] Class update date: 180102
[Lr] Last revision date:180102
[St] Status:In-Process
[do] DOI:10.1111/jcpt.12593

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[PMID]: 29209134
[Au] Autor:Ivanovski I; Jesic M; Ivanovski A; Garavelli L; Ivanovski P
[Ad] Address:Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, 42123 Reggio Emilia, Italy.
[Ti] Title:Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.
[So] Source:World J Gastroenterol;23(44):7930-7938, 2017 Nov 28.
[Is] ISSN:2219-2840
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive. There is some evidence that the accumulation of urea cycle (UC) intermediates are toxic for hepatocyte mitochondria. It is possible that liver injury is directly caused by the toxicity of ammonia. The rarity of UCDs, the lack of checking of iron level in these patients, superficial knowledge of UC and an underestimation of the metabolic role of fumaric acid, are the main reasons that are responsible for the incomprehension of the mechanism of liver injury in patients suffering from UCDs. Owing to our routine clinical practice to screen for iron overload in severely ill neonates, with the focus on the newborns suffering from acute liver failure, we report a case of citrullinemia with neonatal liver failure and high blood parameters of iron overload. We hypothesize that the key is in the decreased-deficient fumaric acid production in the course of UC in UCDs that causes several sequentially intertwined metabolic disturbances with final result of liver iron overload. The presented hypothesis could be easily tested by examining the patients suffering from UCDs, for liver iron overload. This could be easily performed in countries with a high population and comprehensive national register for inborn errors of metabolism. CONCLUSION: Providing the hypothesis is correct, neonatal liver damage in patients having UCD can be prevented by the supplementation of pregnant women with fumaric or succinic acid, prepared in the form of iron supplementation pills. After birth, liver damage in patients having UCDs can be prevented by supplementation of these patients with zinc fumarate or zinc succinylate, as well.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[St] Status:In-Process
[do] DOI:10.3748/wjg.v23.i44.7930

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[PMID]: 29247816
[Au] Autor:Yuan F; Guo D; Liu Y; Xu Y; Gao G; Wu Y; Yang F; Ke X; Lai K; Wei H; Li YX
[Ad] Address:Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; School of Life Sciences, University of Science and Technology of China, Hefei, China; Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Reg
[Ti] Title:Generation of an ASS1 heterozygous knockout human embryonic stem cell line, WAe001-A-13, using CRISPR/Cas9.
[So] Source:Stem Cell Res;26:67-71, 2017 Nov 10.
[Is] ISSN:1876-7753
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The ASS1 gene encodes argininosuccinate synthetase-1, a cytosolic enzyme with a critical role in the urea cycle. Mutations are found in all ASS1 exons and cause the autosomal recessive disorder citrullinemia. Using CRISPR/Cas9-editing, we established the WAe001-A-13 cell line, which was heterozygous for an ASS1 mutation, from the human embryonic stem cell line H1. The WAe001-A-13 cell line maintained the pluripotent phenotype, the ability to differentiate into all three germ layers and a normal karyotype.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171216
[Lr] Last revision date:171216
[St] Status:Publisher

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[PMID]: 29094226
[Au] Autor:Wasim M; Awan FR; Khan HN; Tawab A; Iqbal M; Ayesha H
[Ad] Address:Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) / [Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad], Jhang Road, P.O. Box. 577, Faisalabad, 38000, Pakistan.
[Ti] Title:Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
[So] Source:Biochem Genet;, 2017 Nov 01.
[Is] ISSN:1573-4927
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies. Out of 91 treatable IEM, thirteen disorders are amino acid related. Aminoacidopathies can be detected by chromatography and mass spectrometry based analytical techniques (e.g., HPLC, GC-MS, LC-MS/MS) for amino acid level changes, and through genetic assays (e.g., PCR, TaqMan Genotyping, DNA sequencing) at the mutation level in the corresponding genes. Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and type II, Argininosuccinic aciduria, Carbamoyl Phosphate Synthetase I (CPS) deficiency, Argininemia (arginase deficiency), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, N-Acetylglutamate Synthase (NAGS) deficiency, Ornithine Transcarbamylase (OTC) deficiency, and Pyruvate Dehydrogenase (PDH) complex deficiency. Furthermore, the etiology, prevalence and commonly used analytical techniques for screening of aminoacidopathies are briefly described. This information would be helpful to researchers and clinicians especially from developing countries to initiate newborn screening programs for aminoacidopathies.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:Publisher
[do] DOI:10.1007/s10528-017-9825-6

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[PMID]: 29039163
[Au] Autor:Huang X; Zhang Y; Hong F; Zheng J; Yang J; Tong F; Mao H; Huang X; Zhou X; Yang R; Zhao Z
[Ad] Address:Department of Genetic and Metabolic Diseases, the Children's Hospital, Zhejiang University School of Medicine, Neonatal Screening Center of Zhejiang Province, Hangzhou 310003, China.
[Ti] Title:[Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
[So] Source:Zhejiang Da Xue Xue Bao Yi Xue Ban;46(3):233-239, 2017 May 25.
[Is] ISSN:1008-9292
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type â…  (1:265 700), 6 with hyperprolinemia type â…  (1:310 000), and 2 with carbamylphosphate synthetase â…  deficiency(1:930 000). In addition, ornithine transcarbamylase deficiency, cystathionine ß-synthase deficiency, argininosucoinate aciduria and tyrosinemia type â…  were detected in one patient for each, respectively. Two patients had developmental delay, 7 patients were dead, and 2 cases of maple syrup urine disease were lost to follow-up. CONCLUSIONS: Hyperphenylalaninaemia is the most common amino acid metabolic disease in newborns in Zhejiang province. Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171017
[Lr] Last revision date:171017
[St] Status:In-Data-Review

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[PMID]: 28987776
[Au] Autor:Yang CH; Chen CY; Chou YY; Chiu HC; Tsai WL; Shiesh SC
[Ad] Address:Department of Medical Laboratory Science and Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
[Ti] Title:Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency.
[So] Source:Clin Chim Acta;475:28-35, 2017 Dec.
[Is] ISSN:1873-3492
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by conjugated hyperbilirubinemia and increased plasma bile acid concentrations. However, the underlying mechanisms remain unclear. We established a liquid chromatography tandem mass spectrometry (LC-MS/MS) method for simultaneously quantifying plasma bile acids and examined bile acid profiles in NICCD infants. METHODS: We measured 15 bile acids within 15min and found a wide linear range for individual bile acids. RESULTS: The within-run and run-to-run CV of all bile acids was 1.2-10.9% and 3.1-10.8%, respectively, with a mean recovery of 90.5-112.6%. Compared to infants with citrullinemia without mutations in SLC25A13 (non-NICCD), NICCD infants showed increased plasma total bile acid concentrations (mean: 201 vs. 42µM, p<0.001), with a distinct bile acid profile characterized by increased conjugated primary bile acid concentrations. The calculated ratios, including primary/secondary bile acid (714 vs. 235, p<0.05) and conjugated/free bile acid (371 vs. 125, p<0.05) ratios, were higher in NICCD infants. The area under receiver operating characteristic curve for conjugated/free bile acid ratio to identify infants with NICCD was 0.871 (95% confidence interval, 0.713-1.0). CONCLUSIONS: Together, our findings indicated plasma bile acid profile as a potential noninvasive diagnostic biomarker for NICCD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171118
[Lr] Last revision date:171118
[St] Status:In-Process

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[PMID]: 28981931
[Au] Autor:Lin Y; Yu K; Li L; Zheng Z; Lin W; Fu Q
[Ad] Address:Neonatal Disease Screening Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian 362000, China. wrightlym@sina.com.
[Ti] Title:[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(5):676-679, 2017 Oct 10.
[Is] ISSN:1003-9406
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: To detect potential mutations in six patients with citrullinemia. METHODS: Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing. RESULTS: One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23]. Among these, the c.1311T>G mutation was first identified in the Chinese population, and the IVS6-11A>G mutation was a novel variation which may affect the splicing, as predicted by Human Splicing Finder software. CONCLUSION: This study has confirmed the molecular diagnosis of citrullinemia in six patients and expanded the mutational spectrum underlying citrullinemia.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171005
[Lr] Last revision date:171005
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.05.012

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[PMID]: 28888854
[Au] Autor:Jiang Y; Almannai M; Sutton VR; Sun Q; Elsea SH
[Ad] Address:Division of Biochemical Genetics, Baylor Genetics Laboratories, Houston, TX, United States.
[Ti] Title:Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
[So] Source:Mol Genet Metab;, 2017 Aug 31.
[Is] ISSN:1096-7206
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Urea cycle disorders (UCDs) are genetic conditions characterized by nitrogen accumulation in the form of ammonia and caused by defects in the enzymes required to convert ammonia to urea for excretion. UCDs include a spectrum of enzyme deficiencies, namely n-acetylglutamate synthase deficiency (NAGS), carbamoyl phosphate synthetase I deficiency (CPS1), ornithine transcarbamylase deficiency (OTC), argininosuccinate lyase deficiency (ASL), citrullinemia type I (ASS1), and argininemia (ARG). Currently, sodium phenylbutyrate and glycerol phenylbutyrate are primary medications used to treat patients with UCDs, and long-term monitoring of these compounds is critical for preventing drug toxic levels. Therefore, a fast and simple ultra-performance liquid chromatography (UPLC-MS/MS) method was developed and validated for quantification of phenylbutyrate (PB), phenylacetate (PA), and phenylacetylglutamine (PAG) in plasma and urine. The separation of all three analytes was achieved in 2min, and the limits of detection were <0.04µg/ml. Intra-precision and inter-precision were <8.5% and 4% at two quality control concentrations, respectively. Average recoveries for all compounds ranged from 100% to 106%. With the developed assay, a strong correlation between PA and the PA/PAG ratio and an inverse correlation between PA/PAG ratio and plasma glutamine were observed in 35 patients with confirmed UCDs. Moreover, all individuals with a ratio ≥0.6 had plasma glutamine levels<1000µmol/l. Our data suggest that a PA/PAG ratio in the range of 0.6-1.5 will result in a plasma glutamine level<1000µmol/l without reaching toxic levels of PA.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170910
[Lr] Last revision date:170910
[St] Status:Publisher

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[PMID]: 28847840
[Au] Autor:Chen L; Zhao B; Shang H
[Ad] Address:From the Department of Neurology, West China Hospital, Sichuan University, China.
[Ti] Title:Teaching Neuro : Reversible brain MRI lesions in adult-onset type II citrullinemia.
[So] Source:Neurology;89(9):e115, 2017 Aug 29.
[Is] ISSN:1526-632X
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170829
[Lr] Last revision date:170829
[St] Status:In-Data-Review
[do] DOI:10.1212/WNL.0000000000004298


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