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[PMID]:29237523
[Au] Autor:Lin SX; Shu JB; Wang C; Pan R; Meng YT; Zhang CH; Zhang BL; Wang D; Zhang YQ
[Ad] Endereço:Tianjin Children's Hospital, Tianjin 300074, China. zhangyuqin0809@sina.com.
[Ti] Título:[Clinical analysis of 15 851 children at risk of inherited metabolic diseases].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(12):1243-1247, 2017 Dec.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the value of urine gas chromatography-mass spectrometry (GC-MS) in the screening of children at risk of inherited metabolic diseases (IMD), and to identify the disease spectrum of IMD and the clinical characteristics of children with IMD. METHODS: The clinical data of 15 851 children at risk of IMD who underwent urine GC-MS in the Tianjin Children's Hospital between February 2012 and December 2016 were retrospectively analyzed. RESULTS: In the 15 851 children, 5 793 (36.55%) were detected to have metabolic disorders. A total of 117 (0.74%) children were confirmed to have IMD, including 77 cases of methylmalonic acidemia (65.8%). The clinical manifestations of confirmed cases in the neonatal period mainly included jaundice, metabolic acidosis, abnormal muscular tension, feeding difficulty, poor response, and lethargy or coma. The clinical manifestations of confirmed cases in the non-neonatal period mainly included delayed mental and motor development, metabolic acidosis, convulsion, recurrent vomiting, and anemia. CONCLUSIONS: GC-MS is an effective method for the screening for IMD in children at risk. Methylmalonic acidemia is the most common IMD. The clinical manifestations of IMD are different between the confirmed cases in the neonatal and non-neonatal periods.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo/diagnóstico
[Mh] Termos MeSH secundário: Acidose/etiologia
Adolescente
Erros Inatos do Metabolismo dos Aminoácidos/complicações
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico
Criança
Pré-Escolar
Deficiências do Desenvolvimento/etiologia
Feminino
Cromatografia Gasosa-Espectrometria de Massas
Seres Humanos
Lactente
Recém-Nascido
Masculino
Erros Inatos do Metabolismo/complicações
Estudos Retrospectivos
Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE


  2 / 5269 MEDLINE  
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[PMID]:29340523
[Au] Autor:Xia H; Ye J; Wang L; Zhu J; He Z
[Ad] Endereço:Department of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
[Ti] Título:A case of severe glutathione synthetase deficiency with novel GSS mutations.
[So] Source:Braz J Med Biol Res;51(3):e6853, 2018 Jan 11.
[Is] ISSN:1414-431X
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made. DNA sequence analysis revealed the infant to be compound heterozygous with two mutations, c.738dupG in exon 8 of GSS gene resulting in p.S247fs and a repetitive sequence in exon 3 of GSS gene. Treatment after diagnosis of GSSD included supplementation with antioxidants and oral sodium hydrogen bicarbonate. However, he maintained a variable degree of metabolic acidosis and succumbed shortly after his parents requested discontinuation of therapy because of dismal prognosis and medical futility when he was 18 days old.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/genética
Glutationa Sintase/deficiência
Mutação
[Mh] Termos MeSH secundário: Acidose/etiologia
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo
Ácido Glutâmico/análise
Glutationa Sintase/genética
Glutationa Sintase/metabolismo
Seres Humanos
Recém-Nascido
Masculino
Piroglutamato Hidrolase/deficiência
Piroglutamato Hidrolase/genética
Análise de Sequência de DNA/métodos
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
3KX376GY7L (Glutamic Acid); EC 3.5.2.- (Pyroglutamate Hydrolase); EC 6.3.2.3 (Glutathione Synthase)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180118
[St] Status:MEDLINE


  3 / 5269 MEDLINE  
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[PMID]:29217198
[Au] Autor:Maalej M; Tej A; Bouguila J; Tilouche S; Majdoub S; Khabou B; Tabbebi M; Felhi R; Ammar M; Mkaouar-Rebai E; Keskes L; Boughamoura L; Fakhfakh F
[Ad] Endereço:Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Tunisia; Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, University of Sfax, Tunisia. Electronic address: marwamaalej7@gmail.com.
[Ti] Título:Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
[So] Source:Biochem Biophys Res Commun;495(2):1730-1737, 2018 01 08.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (ß subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.
[Mh] Termos MeSH primário: Encefalomiopatias Mitocondriais/enzimologia
Encefalomiopatias Mitocondriais/genética
Mutação de Sentido Incorreto
Succinato-CoA Ligases/deficiência
Succinato-CoA Ligases/genética
[Mh] Termos MeSH secundário: Acidose Láctica/genética
Erros Inatos do Metabolismo dos Aminoácidos/genética
Substituição de Aminoácidos
Pré-Escolar
Consanguinidade
DNA Mitocondrial/genética
Estabilidade Enzimática/genética
Feminino
Dosagem de Genes
Perda Auditiva/genética
Homozigoto
Seres Humanos
Lactente
Masculino
Hipotonia Muscular/genética
Succinato-CoA Ligases/química
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial); EC 6.2.1.- (SUCLG1 protein, human); EC 6.2.1.- (Succinate-CoA Ligases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:29068997
[Au] Autor:Chen M; Zhuang J; Yang J; Wang D; Yang Q
[Ad] Endereço:Department of Nephrology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
[Ti] Título:Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
[So] Source:Medicine (Baltimore);96(43):e8284, 2017 Oct.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage. PATIENT CONCERNS: A 4-year-old girl presented with paleness, fatigue, severe normochromic anemia, and acute kidney injury. DIAGNOSIS: Based on severe normochromic anemia and acute kidney injury, renal biopsy showed membranous proliferative glomerular lesions and thrombotic microvascular disease, supporting the diagnosis of aHUS. Although the serum vitamin B12 was normal, further investigation found the concentration of urinary methylmalonic acid and serum homocysteine increased obviously, genetic analysis revealed a heterozygous MMACHC mutation (exonl: c. 80A >G, c. 609G >A). The final diagnosis was aHUS induced by inherited methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A). INTERVENTIONS: The patient was treated with a 1mg vitamin B12 intramuscular injection daily for 4 days after which the dose was then adjusted to a 1mg intramuscular injection twice a week. At the same time, the girl was given levocarnitine, betaine, folic acid, along with supportive treatment. OUTCOMES: After treated by vitamin B12 for 10 days, the patient condition significantly improved, Follow-up results showed complete recovery of hemoglobin and renal function. LESSONS: Although the majority of MMA onset from neurological damage, our case illustrates that partial CblC-type MMA can onset with severe metabolic aHUS. On the basis of chronic thrombotic microangiopathy (TMA)-induced renal damage, it can be complicated by acute hemolytic lesions. MMA should be considered in those patients with unclear microangiopathic hemolytic anemia accompany significant megaloblastic degeneration in bone marrow. We should pay attention to the causes and adopt a reasonable treatment strategy.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos
Síndrome Hemolítico-Urêmica Atípica
Proteínas de Transporte/genética
Vitamina B 12
[Mh] Termos MeSH secundário: Erros Inatos do Metabolismo dos Aminoácidos/sangue
Erros Inatos do Metabolismo dos Aminoácidos/complicações
Erros Inatos do Metabolismo dos Aminoácidos/genética
Síndrome Hemolítico-Urêmica Atípica/diagnóstico
Síndrome Hemolítico-Urêmica Atípica/tratamento farmacológico
Síndrome Hemolítico-Urêmica Atípica/etiologia
Síndrome Hemolítico-Urêmica Atípica/fisiopatologia
Pré-Escolar
Feminino
Homocisteína/sangue
Seres Humanos
Rim/patologia
Ácido Metilmalônico/sangue
Mutação
Resultado do Tratamento
Vitamina B 12/administração & dosagem
Vitamina B 12/sangue
Vitamina B 12/metabolismo
Complexo Vitamínico B/administração & dosagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (MMACHC protein, human); 0LVT1QZ0BA (Homocysteine); 12001-76-2 (Vitamin B Complex); 8LL8S712J7 (Methylmalonic Acid); P6YC3EG204 (Vitamin B 12)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171123
[Lr] Data última revisão:
171123
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171026
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008284


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[PMID]:29053743
[Au] Autor:Vogel KR; Ainslie GR; Jansen EE; Salomons GS; Roullet JB; Gibson KM
[Ad] Endereço:Experimental and Systems Pharmacology and Pharmacotherapy, College of Pharmacy, Washington State University, Spokane, WA.
[Ti] Título:In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.
[So] Source:PLoS One;12(10):e0186919, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We explored the utility of neural stem cells (NSCs) as an in vitro model for evaluating preclinical therapeutics in succinic semialdehyde dehydrogenase-deficient (SSADHD) mice. NSCs were obtained from aldh5a1+/+ and aldh5a1-/- mice (aldh5a1 = aldehyde dehydrogenase 5a1 = SSADH). Multiple parameters were evaluated including: (1) production of GHB (γ-hydroxybutyrate), the biochemical hallmark of SSADHD; (2) rescue from cell death with the dual mTOR (mechanistic target of rapamycin) inhibitor, XL-765, an agent previously shown to rescue aldh5a1-/- mice from premature lethality; (3) mitochondrial number, total reactive oxygen species, and mitochondrial superoxide production, all previously documented as abnormal in aldh5a1-/- mice; (4) total ATP levels and ATP consumption; and (5) selected gene expression profiles associated with epilepsy, a prominent feature in both experimental and human SSADHD. Patterns of dysfunction were observed in all of these parameters and mirrored earlier findings in aldh5a1-/- mice. Patterns of dysregulated gene expression between hypothalamus and NSCs centered on ion channels, GABAergic receptors, and inflammation, suggesting novel pathomechanisms as well as a developmental ontogeny for gene expression potentially associated with the murine epileptic phenotype. The NSC model of SSADHD will be valuable in providing a first-tier screen for centrally-acting therapeutics and prioritizing therapeutic concepts of preclinical animal studies applicable to SSADHD.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/patologia
Encéfalo/patologia
Deficiências do Desenvolvimento/patologia
Modelos Animais de Doenças
Células-Tronco Neurais/patologia
Succinato-Semialdeído Desidrogenase/deficiência
[Mh] Termos MeSH secundário: Trifosfato de Adenosina/metabolismo
Animais
Meios de Cultura
Epilepsia/genética
Técnicas In Vitro
Camundongos
Estresse Oxidativo
Succinato-Semialdeído Desidrogenase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Culture Media); 8L70Q75FXE (Adenosine Triphosphate); EC 1.2.1.24 (Succinate-Semialdehyde Dehydrogenase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0186919


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[PMID]:28915261
[Au] Autor:Monostori P; Klinke G; Richter S; Baráth Á; Fingerhut R; Baumgartner MR; Kölker S; Hoffmann GF; Gramer G; Okun JG
[Ad] Endereço:Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
[Ti] Título:Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
[So] Source:PLoS One;12(9):e0184897, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND AIMS: Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to develop a multiplex approach for concurrent determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid from the same dried blood spot (DBS) as in primary screening (second-tier test). We also set out to validate the method using newborn and follow-up samples of patients with confirmed PA or MMACBL. METHODS: The assay was developed using liquid chromatography-tandem mass spectrometry and clinically validated with retrospective analysis of DBS samples from PA or MMACBL patients. RESULTS: Reliable determination of all three analytes in DBSs was achieved following simple and fast (<20 min) sample preparation without laborious derivatization or any additional pipetting steps. The method clearly distinguished the pathological and normal samples and differentiated between PA and MMACBL in all stored newborn specimens. Methylcitric acid was elevated in all PA samples; 3-hydroxypropionic acid was also high in most cases. Methylmalonic acid was increased in all MMACBL specimens; mostly together with methylcitric acid. CONCLUSIONS: A liquid chromatography-tandem mass spectrometry assay allowing simultaneous determination of the biomarkers 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in DBSs has been developed. The assay can use the same specimen as in primary screening (second-tier test) which may reduce the need for repeated blood sampling. The presented preliminary findings suggest that this method can reliably differentiate patients with PA and MMACBL in newborn screening. The validated assay is being evaluated prospectively in a pilot project for extension of the German newborn screening panel (?Newborn screening 2020"; Newborn Screening Center, University Hospital Heidelberg).
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/sangue
Citratos/sangue
Teste em Amostras de Sangue Seco/métodos
Ácido Láctico/análogos & derivados
Programas de Rastreamento/métodos
Ácido Metilmalônico/sangue
Acidemia Propiônica/sangue
[Mh] Termos MeSH secundário: Cromatografia Líquida/métodos
Feminino
Seres Humanos
Recém-Nascido
Ácido Láctico/sangue
Masculino
Espectrometria de Massas/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Citrates); 33X04XA5AT (Lactic Acid); 6061-96-7 (2-methylcitric acid); 8LL8S712J7 (Methylmalonic Acid); C4ZF6XLD2X (hydracrylic acid)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170916
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0184897


  7 / 5269 MEDLINE  
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Wajner, Moacir
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[PMID]:28762469
[Au] Autor:Vendramin Pasquetti M; Meier L; Loureiro S; Ganzella M; Junges B; Barbieri Caus L; Umpierrez Amaral A; Koeller DM; Goodman S; Woontner M; Gomes de Souza DO; Wajner M; Calcagnotto ME
[Ad] Endereço:Postgraduate Program in Biological Sciences: Biochemistry, Department of Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
[Ti] Título:Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
[So] Source:Epilepsia;58(10):1771-1781, 2017 Oct.
[Is] ISSN:1528-1167
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Glutaric acidemia type I (GA-I) is an inherited neurometabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH) and characterized by increased levels of glutaric, 3-OH-glutaric, and glutaconic acids in the brain parenchyma. The increment of these organic acids inhibits glutamate decarboxylase (GAD) and consequently lowers the γ-aminobutyric acid (GABA) synthesis. Untreated patients exhibit severe neurologic deficits during development, including epilepsy, especially following an acute encephalopathy outbreak. In this work, we evaluated the role of the GABAergic system on epileptogenesis in GA-I using the Gcdh mice exposed to a high lysine diet (Gcdh -Lys). METHODS: Spontaneous recurrent seizures (SRS), seizure susceptibility, and changes in brain oscillations were evaluated by video-electroencephalography (EEG). Cortical GABAergic synaptic transmission was evaluated using electrophysiologic and neurochemical approaches. RESULTS: SRS were observed in 72% of Gcdh -Lys mice, whereas no seizures were detected in age-matched controls (Gcdh or Gcdh receiving normal diet). The severity and number of PTZ-induced seizures were higher in Gcdh -Lys mice. EEG spectral analysis showed a significant decrease in theta and gamma oscillations and predominant delta waves in Gcdh -Lys mice, associated with increased EEG left index. Analysis of cortical synaptosomes revealed a significantly increased percentage of glutamate release and decreased GABA release in Gcdh -Lys mice that were associated with a decrease in cortical GAD immunocontent and activity and confirmed by reduced frequency of inhibitory events in cortical pyramidal cells. SIGNIFICANCE: Using an experimental model with a phenotype similar to that of GA-I in humans-the Gcdh mice under high lysine diet (Gcdh -Lys)-we provide evidence that a reduction in cortical inhibition of Gcdh -Lys mice, probably induced by GAD dysfunction, leads to hyperexcitability and increased slow oscillations associated with neurologic abnormalities in GA-I. Our findings offer a new perspective on the pathophysiology of brain damage in GA-I.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/genética
Encefalopatias Metabólicas/genética
Encéfalo/efeitos dos fármacos
Epilepsia/genética
Glutaril-CoA Desidrogenase/deficiência
Glutaril-CoA Desidrogenase/genética
Ácido gama-Aminobutírico/efeitos dos fármacos
[Mh] Termos MeSH secundário: Erros Inatos do Metabolismo dos Aminoácidos/metabolismo
Animais
Western Blotting
Encefalopatias Metabólicas/metabolismo
Cromatografia Líquida de Alta Pressão
Epilepsia/metabolismo
Antagonistas GABAérgicos/farmacologia
Glutamato Descarboxilase
Ácido Glutâmico/efeitos dos fármacos
Ácido Glutâmico/metabolismo
Glutaril-CoA Desidrogenase/metabolismo
Camundongos
Camundongos Knockout
Pentilenotetrazol/farmacologia
Sinaptossomos/efeitos dos fármacos
Sinaptossomos/metabolismo
Ácido gama-Aminobutírico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GABA Antagonists); 3KX376GY7L (Glutamic Acid); 56-12-2 (gamma-Aminobutyric Acid); EC 1.3.8.6 (Glutaryl-CoA Dehydrogenase); EC 4.1.1.15 (Glutamate Decarboxylase); WM5Z385K7T (Pentylenetetrazole)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170802
[St] Status:MEDLINE
[do] DOI:10.1111/epi.13862


  8 / 5269 MEDLINE  
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[PMID]:28734160
[Au] Autor:Minkler PE; Stoll MSK; Ingalls ST; Hoppel CL
[Ad] Endereço:Center for Mitochondrial Diseases, Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.
[Ti] Título:Selective and accurate C5 acylcarnitine quantitation by UHPLC-MS/MS: Distinguishing true isovaleric acidemia from pivalate derived interference.
[So] Source:J Chromatogr B Analyt Technol Biomed Life Sci;1061-1062:128-133, 2017 Sep 01.
[Is] ISSN:1873-376X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Tandem MS acylcarnitine "profiles" are extremely valuable. Although used appropriately in newborn screening programs to identify patients with possible diseases, their inadequate quantitative accuracy and lack of selectivity is problematic for confirmatory testing. In this report, we show the application of our validated, selective, accurate, precise, and robust UHPLC-MS/MS method for quantitation of acylcarnitines, specifically to C5 acylcarnitines: pivaloyl-, 2-methylbutyryl-, isovaleryl-, and valerylcarnitine. Standardized calibrants were used to generate 13-point, 200-fold concentration range calibration curves. Samples were isolated by solid-phase extraction and derivatized with pentafluorophenacyl trifluoromethanesulfonate. Acylcarnitine pentafluorophenacyl esters were eluted in 14min chromatograms. Data demonstrating quantitative stability and method robustness over a five year time period are shown and these results validate the method's accuracy and robustness. Urine from patients with isovaleric acidemia (with the disease marker isovalerylcarnitine) and with pivaloylcarnitine present are shown. These results demonstrate the method's ability to distinguish true isovaleric acidemia from pivalate derived interference. Our method for acylcarnitine quantitation is shown to be accurate, precise, and robust for selective quantitation of isovalerylcarnitine, and thus is recommended for confirmatory testing of suspected isovaleric acidemia patients.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/urina
Carnitina/análogos & derivados
Cromatografia Líquida de Alta Pressão/métodos
Isovaleril-CoA Desidrogenase/deficiência
Espectrometria de Massas em Tandem/métodos
[Mh] Termos MeSH secundário: Carnitina/urina
Seres Humanos
Isovaleril-CoA Desidrogenase/urina
Limite de Detecção
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (acylcarnitine); 98299-38-8 (pivaloylcarnitine); EC 1.3.8.4 (Isovaleryl-CoA Dehydrogenase); S7UI8SM58A (Carnitine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170723
[St] Status:MEDLINE


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[PMID]:28712849
[Au] Autor:Liu LK; Becker DF; Tanner JJ
[Ad] Endereço:Department of Biochemistry, University of Missouri, Columbia, MO, 65211, United States.
[Ti] Título:Structure, function, and mechanism of proline utilization A (PutA).
[So] Source:Arch Biochem Biophys;632:142-157, 2017 Oct 15.
[Is] ISSN:1096-0384
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Proline has important roles in multiple biological processes such as cellular bioenergetics, cell growth, oxidative and osmotic stress response, protein folding and stability, and redox signaling. The proline catabolic pathway, which forms glutamate, enables organisms to utilize proline as a carbon, nitrogen, and energy source. FAD-dependent proline dehydrogenase (PRODH) and NAD -dependent glutamate semialdehyde dehydrogenase (GSALDH) convert proline to glutamate in two sequential oxidative steps. Depletion of PRODH and GSALDH in humans leads to hyperprolinemia, which is associated with mental disorders such as schizophrenia. Also, some pathogens require proline catabolism for virulence. A unique aspect of proline catabolism is the multifunctional proline utilization A (PutA) enzyme found in Gram-negative bacteria. PutA is a large (>1000 residues) bifunctional enzyme that combines PRODH and GSALDH activities into one polypeptide chain. In addition, some PutAs function as a DNA-binding transcriptional repressor of proline utilization genes. This review describes several attributes of PutA that make it a remarkable flavoenzyme: (1) diversity of oligomeric state and quaternary structure; (2) substrate channeling and enzyme hysteresis; (3) DNA-binding activity and transcriptional repressor function; and (4) flavin redox dependent changes in subcellular location and function in response to proline (functional switching).
[Mh] Termos MeSH primário: 1-Pirrolina-5-Carboxilato Desidrogenase/química
Proteínas de Bactérias/química
Flavoproteínas/química
Bactérias Gram-Negativas/enzimologia
Proteínas de Membrana/química
Prolina Oxidase/química
[Mh] Termos MeSH secundário: 1-Pirrolina-5-Carboxilato Desidrogenase/deficiência
1-Pirrolina-5-Carboxilato Desidrogenase/genética
1-Pirrolina-5-Carboxilato Desidrogenase/metabolismo
Erros Inatos do Metabolismo dos Aminoácidos
Animais
Proteínas de Bactérias/genética
Proteínas de Bactérias/metabolismo
Flavina-Adenina Dinucleotídeo/química
Flavina-Adenina Dinucleotídeo/genética
Flavina-Adenina Dinucleotídeo/metabolismo
Flavoproteínas/genética
Flavoproteínas/metabolismo
Seres Humanos
Proteínas de Membrana/genética
Proteínas de Membrana/metabolismo
Prolina/química
Prolina/genética
Prolina/metabolismo
Prolina Oxidase/genética
Prolina Oxidase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Bacterial Proteins); 0 (Flavoproteins); 0 (Membrane Proteins); 0 (PutA protein, Bacteria); 146-14-5 (Flavin-Adenine Dinucleotide); 9DLQ4CIU6V (Proline); EC 1.2.1.88 (1-Pyrroline-5-Carboxylate Dehydrogenase); EC 1.5.3.- (Proline Oxidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE


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[PMID]:28629683
[Au] Autor:Evans M; Truby H; Boneh A
[Ad] Endereço:Department of Metabolic Medicine, Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, Australia; Department of Nutrition and Food Services, Royal Children's Hospital, Melbourne, Australia; Department of Nutrition, Dietetics and Food, Monash University, Melbourne, Australia. Electronic address: maureen.evans@rch.org.au.
[Ti] Título:The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.
[So] Source:J Pediatr;188:163-172, 2017 Sep.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes. STUDY DESIGN: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected. Prospective longitudinal data of growth, dietary intake, and body composition from 21 patients: IVA (n = 5), MMA/PA (n = 6), UCD (n = 7), and MSUD (n = 3) were collected at clinic visits. RESULTS: Fifty-two of 75 (66%), 49 of 74 (68%), and 44 of 65 (68%) patients had a z-score of 0 (±1) for lifetime weight, height, and body mass index, respectively. Patients with MMA/PA had the lowest median height and weight z-scores, and MSUD patients had highest median body mass index z-score at all ages. In IVA, MMA/PA, and UCD, total natural protein intake met or exceeded the Food and Agriculture Organization of the United Nations (FAO)/World Health Organization (WHO)/United Nations University (UNU) recommended safe levels. Median percentage fat mass was 17.6% in IVA, 20.7% in MMA/PA, 19.4% in UCD, and 17.8% in MSUD. There was a significant negative correlation between percentage fat mass and total protein intake in IVA, MMA/PA, and UCD (r = -0.737; P = .010). The correlation between the P:E ratio and growth variables in IVA, MMA/PA, and UCD suggest a safe P:E ratio (>1.5 to < 2.9) g protein:100 kcal/day. CONCLUSION: Growth outcomes in inborn errors of intermediary protein metabolism are not always ideal. Most patients with IVA, MMA/PA, and UCD consume sufficient natural protein to meet FAO/WHO/UNU recommendations. A P:E ratio range of (>1.5 to < 2.9)g protein/100 kcal/day correlates with optimal growth outcomes.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia
Composição Corporal/fisiologia
Ingestão de Energia/fisiologia
[Mh] Termos MeSH secundário: Adolescente
Distribuição da Gordura Corporal
Estatura/fisiologia
Índice de Massa Corporal
Peso Corporal/fisiologia
Criança
Pré-Escolar
Proteínas na Dieta/administração & dosagem
Feminino
Seres Humanos
Estudos Longitudinais
Masculino
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dietary Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170621
[St] Status:MEDLINE



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