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[PMID]:29031613
[Au] Autor:Majd H; King MS; Smith AC; Kunji ERS
[Ad] Endereço:Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.
[Ti] Título:Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.
[So] Source:Biochim Biophys Acta;1859(1):1-7, 2018 01.
[Is] ISSN:0006-3002
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Missense mutations of the human mitochondrial citrate carrier, encoded by the SLC25A1 gene, lead to an autosomal recessive neurometabolic disorder characterised by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development, often resulting in early death. Here, we have measured the effect of all twelve known pathogenic mutations on the transport activity. The results show that nine mutations abolish transport of citrate completely, whereas the other three reduce the transport rate by >70%, indicating that impaired citrate transport is the most likely primary cause of the disease. Some mutations may be detrimental to the structure of the carrier, whereas others may impair key functional elements, such as the substrate binding site and the salt bridge network on the matrix side of the carrier. To understand the consequences of impaired citrate transport on metabolism, the substrate specificity was also determined, showing that the human citrate carrier predominantly transports citrate, isocitrate, cis-aconitate, phosphoenolpyruvate and malate. Although D-2- and L-2 hydroxyglutaric aciduria is a metabolic hallmark of the disease, it is unlikely that the citrate carrier plays a significant role in the removal of hydroxyglutarate from the cytosol for oxidation to oxoglutarate in the mitochondrial matrix. In contrast, computer simulations of central metabolism predict that the export of citrate from the mitochondrion cannot be fully compensated by other pathways, restricting the cytosolic production of acetyl-CoA that is required for the synthesis of lipids, sterols, dolichols and ubiquinone, which in turn explains the severe disease phenotypes.
[Mh] Termos MeSH primário: Proteínas de Transporte de Ânions
Ácido Cítrico/metabolismo
Simulação por Computador
Dolicol
Proteínas Mitocondriais
Modelos Biológicos
Mutação de Sentido Incorreto
Esteróis
Ubiquinona
[Mh] Termos MeSH secundário: Proteínas de Transporte de Ânions/química
Proteínas de Transporte de Ânions/genética
Proteínas de Transporte de Ânions/metabolismo
Transporte Biológico Ativo/genética
Encefalopatias Metabólicas Congênitas/enzimologia
Encefalopatias Metabólicas Congênitas/genética
Domínio Catalítico
Dolicol/biossíntese
Dolicol/química
Dolicol/genética
Seres Humanos
Proteínas Mitocondriais/química
Proteínas Mitocondriais/genética
Proteínas Mitocondriais/metabolismo
Esteróis/biossíntese
Esteróis/química
Esteróis/metabolismo
Ubiquinona/biossíntese
Ubiquinona/química
Ubiquinona/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Anion Transport Proteins); 0 (Mitochondrial Proteins); 0 (Slc25a1 protein, human); 0 (Sterols); 1339-63-5 (Ubiquinone); 2067-66-5 (Dolichol); 2968PHW8QP (Citric Acid)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171017
[St] Status:MEDLINE


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[PMID]:28437535
[Au] Autor:Hao J; Kelly DI; Su J; Pascual JM
[Ad] Endereço:Department of Mathematics, University of Texas at Arlington, Arlington.
[Ti] Título:Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry.
[So] Source:JAMA Neurol;74(6):727-732, 2017 Jun 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling. Objective: To examine the most common features of G1D. Design, Setting, and Participants: In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016. The study used several statistical methods tailored to address the age at onset of various forms of G1D, associated manifestations, natural history, treatment efficacy, and diagnostic procedures. These factors were correlated in a predictive mathematical model designed to guide prognosis on the basis of clinical features present at diagnosis. Results: A total of 181 patients with G1D were included in the study (92 [50.8%] male and 89 female [49.2%]; median age, 9 years; age range, 0-65 years). As previously known, a relatively large variety of common phenotypes are characteristic of the G1D syndrome, including movement disorders, absence epilepsy (typical and atypical), and myoclonic and generalized epilepsies. The 3 main novel results are (1) the feasibility of effective dietary therapies (such as the modified Atkins diet) other than the ketogenic diet, (2) the relatively frequent occurrence (one-fourth of cases) of white matter magnetic resonance imaging abnormalities, and (3) the favorable effect of early diagnosis and treatment regardless of treatment modality and mutation type. In fact, the most important factor that determines outcome is age at diagnosis, as reflected in a predictive mathematical model. Conclusions and Relevance: The results reveal several changing notions in the approach to G1D syndrome diagnosis and treatment, such as the perceived absolute requirement for a ketogenic diet, the assumed lack of structural brain defects, and the potential existence of genotype-phenotype correlations, all of which are contested by the registry data.
[Mh] Termos MeSH primário: Ataxia/terapia
Encefalopatias Metabólicas Congênitas/diagnóstico
Encefalopatias Metabólicas Congênitas/terapia
Dietoterapia/métodos
Epilepsia/terapia
Transportador de Glucose Tipo 1/deficiência
Deficiência Intelectual/terapia
Sistema de Registros
Substância Branca/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Idoso
Ataxia/etiologia
Ataxia/genética
Encefalopatias Metabólicas Congênitas/complicações
Encefalopatias Metabólicas Congênitas/genética
Criança
Pré-Escolar
Dieta com Restrição de Carboidratos/métodos
Dieta Cetogênica/métodos
Diagnóstico Precoce
Epilepsia/etiologia
Epilepsia/genética
Feminino
Genótipo
Transportador de Glucose Tipo 1/genética
Seres Humanos
Lactente
Deficiência Intelectual/etiologia
Deficiência Intelectual/genética
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glucose Transporter Type 1)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170425
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2017.0298


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[PMID]:28141777
[Au] Autor:Isikay S; Isikay N; Kirik S; Güngör O
[Ad] Endereço:Department of Pediatric Neurology Hasan Kalyoncu University Kahramanmaras, Turkey dr.sedatisikay@mynet.com Faculty of Medicine Department of Anesthesiology Gaziantep University Gaziantep, Turkey Department of Pediatric Neurology Kahramanmaras Sütçü Imam University Kahramanmaras, Turkey.
[Ti] Título:An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis.
[So] Source:Pediatr Emerg Care;33(2):e1, 2017 Feb.
[Is] ISSN:1535-1815
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/diagnóstico
Meningites Bacterianas/diagnóstico
[Mh] Termos MeSH secundário: Doença Aguda
Encéfalo/patologia
Criança
Diagnóstico Diferencial
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170504
[Lr] Data última revisão:
170504
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170201
[St] Status:MEDLINE
[do] DOI:10.1097/PEC.0000000000001029


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[PMID]:27885126
[Au] Autor:Bohm M
[Ad] Endereço:King Edward Veterinary Referral Hospital, Newton Park, Port Elizabeth 6045, South Africa; e-mail: marlies@wol.co.za.
[Ti] Título:Why is L-2 hydroxyglutaric aciduria relevant for a general practitioner?
[So] Source:Vet Rec;179(21):543-544, 2016 Nov 26.
[Is] ISSN:2042-7670
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/veterinária
Doenças do Cão/diagnóstico
Doenças do Cão/genética
[Mh] Termos MeSH secundário: Animais
Encefalopatias Metabólicas Congênitas/diagnóstico
Encefalopatias Metabólicas Congênitas/genética
Cruzamento
Cães
Especificidade da Espécie
[Pt] Tipo de publicação:EDITORIAL; INTRODUCTORY JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161126
[St] Status:MEDLINE
[do] DOI:10.1136/vr.i6346


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[PMID]:27729589
[Au] Autor:Shea A; De Risio L; Carruthers H; Ekiri A; Beltran E
[Ad] Endereço:Neurology/Neurosurgery Service, Centre for Small Animal Studies, The Animal Health Trust, Newmarket, UK.
[Ti] Título:Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers.
[So] Source:Vet Rec;179(21):545, 2016 Nov 26.
[Is] ISSN:2042-7670
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:To describe the development of clinical signs (CS) and outcome of L-2-hydroxyglutaric aciduria (L-2-HGA), owners of 119 Staffordshire bull terriers positive for the known L-2-hydroxyglutarate dehydrogenase autosomal-recessive mutations were requested to complete a questionnaire regarding their pet's CS. Questionnaires were returned for 27 dogs, all with neurological abnormalities-not all questions were answered in all cases. The mean age of CS onset was 12 months (range 2.5-60). Gait dysfunction was reported in 26/26 dogs, with stiffness of all four limbs the most common (24/26) and earliest recognised abnormality. Kyphosis (19/26), body and/or head tremors (19/26) and hypermetria (15/26) were frequent. Behavioural changes were present in 24/27 dogs; most commonly staring into space (21/24), signs of dementia (17/24) and loss of training (15/24). Eighteen dogs demonstrated paroxysmal seizure-like/dyskinetic episodes. Nineteen (70 per cent) dogs were alive at a mean survival time of 76.6 months (12-170) after onset of CS. L-2-HGA was the cause of euthanasia in six dogs. Euthanasia occurred at a mean survival time of 44 months (8.5-93) after onset of CS, with 2/8 dogs euthanased within 12 months. L-2-HGA is considered a progressive neurological disease; however, CS can be successfully managed with affected dogs potentially living a normal lifespan.
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/veterinária
Progressão da Doença
Doenças do Cão/diagnóstico
Doenças do Cão/patologia
[Mh] Termos MeSH secundário: Idade de Início
Animais
Encefalopatias Metabólicas Congênitas/diagnóstico
Encefalopatias Metabólicas Congênitas/patologia
Encefalopatias Metabólicas Congênitas/terapia
Estudos de Coortes
Doenças do Cão/terapia
Cães
Índice de Gravidade de Doença
Especificidade da Espécie
Análise de Sobrevida
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161013
[St] Status:MEDLINE
[do] DOI:10.1136/vr.103783


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[PMID]:27543339
[Au] Autor:Anghileri E; Bertolino N; Salsano E; Antelmi L; Carpinelli P; Castellotti B; Zucca I; Gellera C; Bisogno R; Caccia C; Cuccarini V
[Ad] Endereço:Unit of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, Italy. Electronic address: elena.anghileri@istituto-besta.it.
[Ti] Título:In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria.
[So] Source:Brain Res;1648(Pt A):506-511, 2016 Oct 01.
[Is] ISSN:1872-6240
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:UNLABELLED: L-2-Hydroxyglutaric aciduria (L2HGA) is an extremely rare hereditary neurometabolic disease, characterized by increased L-2-hydroxyglutarate (L2HG) levels in the brain and biological fluids. 24-h urine 2HG level remains the biochemical hallmark for the diagnosis of L2HGA, whereas it is unknown the feasibility to measure in vivo the intracerebral levels of 2HG by using magnetic resonance spectroscopy (MRS). PATIENTS AND METHODS: We used at 3T H(1)-MRS Single-Voxel (SV) PRESS sequences tailored to detect 2HG, in three adult patients with the diagnosis of L2HGA and in healthy controls. We also used mass spectrometric methods to measure the levels of 2HG in plasma and serum. RESULTS: 2HG peak was detected and quantified in the white matter (WM) of the three L2HGA patients, while it was absent in controls. All patients showed also high levels of 2HG in plasma and serum. CONCLUSIONS: Brain 2HG detected by MRS may play a role in the diagnosis and follow-up of L2HGA, besides circulating plasma/serum 2HG levels by mass spectrometric assays, although studies on a large cohort of patients are required to confirm these observations.
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/metabolismo
Encéfalo/metabolismo
Glutaratos/metabolismo
Espectroscopia de Prótons por Ressonância Magnética/métodos
[Mh] Termos MeSH secundário: Adulto
Biomarcadores/metabolismo
Encefalopatias Metabólicas Congênitas/sangue
Encefalopatias Metabólicas Congênitas/diagnóstico
Encefalopatias Metabólicas Congênitas/diagnóstico por imagem
Glutaratos/sangue
Glutaratos/urina
Seres Humanos
Imagem por Ressonância Magnética
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Glutarates); 2889-31-8 (alpha-hydroxyglutarate)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171008
[Lr] Data última revisão:
171008
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160821
[St] Status:MEDLINE


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[PMID]:27466184
[Au] Autor:Baroncelli L; Molinaro A; Cacciante F; Alessandrì MG; Napoli D; Putignano E; Tola J; Leuzzi V; Cioni G; Pizzorusso T
[Ad] Endereço:Institute of Neuroscience, National Research Council (CNR), Pisa, Italy baroncelli@in.cnr.it.
[Ti] Título:A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.
[So] Source:Hum Mol Genet;25(19):4186-4200, 2016 Oct 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment. Since no data are available about the neural and molecular underpinnings of this disease, we performed a longitudinal analysis of behavioural and pathological alterations associated with CrT deficiency in a CCDS1 mouse model. We found precocious cognitive and autistic-like defects, mimicking the early key features of human CCDS1. Moreover, mutant mice displayed a progressive impairment of short and long-term declarative memory denoting an early brain aging. Pathological examination showed a prominent loss of GABAergic synapses, marked activation of microglia, reduction of hippocampal neurogenesis and the accumulation of autofluorescent lipofuscin. Our data suggest that brain Cr depletion causes both early intellectual disability and late progressive cognitive decline, and identify novel targets to design intervention strategies aimed at overcoming brain CCDS1 alterations.
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/genética
Disfunção Cognitiva/genética
Creatina/deficiência
Deficiência Intelectual/genética
Proteínas de Membrana Transportadoras/genética
Retardo Mental Ligado ao Cromossomo X/genética
Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/deficiência
[Mh] Termos MeSH secundário: Envelhecimento/genética
Envelhecimento/patologia
Animais
Encéfalo/fisiopatologia
Encefalopatias Metabólicas Congênitas/fisiopatologia
Disfunção Cognitiva/fisiopatologia
Creatina/genética
Modelos Animais de Doenças
Seres Humanos
Deficiência Intelectual/fisiopatologia
Retardo Mental Ligado ao Cromossomo X/fisiopatologia
Camundongos
Camundongos Transgênicos
Proteínas da Membrana Plasmática de Transporte de Neurotransmissores/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Transport Proteins); 0 (Plasma Membrane Neurotransmitter Transport Proteins); 0 (creatine transporter); MU72812GK0 (Creatine)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170609
[Lr] Data última revisão:
170609
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160729
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddw252


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[PMID]:27103084
[Au] Autor:Chassaing N; Ragge N; Plaisancié J; Patat O; Geneviève D; Rivier F; Malrieu-Eliaou C; Hamel C; Kaplan J; Calvas P
[Ad] Endereço:CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.
[Ti] Título:Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
[So] Source:Am J Med Genet A;170(7):1895-8, 2016 Jul.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Anophthalmia and microphthalmia are the most severe malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball respectively. More than 20 genes have been shown to be mutated in patients with syndromic and non-syndromic forms of anophthalmia-microphthalmia. In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third patient (not related to the previously reported family) with bilateral colobomatous microphthalmia and developmental delay in whom genetic studies identified a homozygous TENM3 splicing mutation c.2968-2A>T (p.Val990Cysfs*13). This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/genética
Coloboma/genética
Opacidade da Córnea/genética
Deficiências do Desenvolvimento/genética
Predisposição Genética para Doença
Deficiência Intelectual/genética
Proteínas de Membrana/genética
Microcefalia/genética
Microftalmia/genética
Proteínas do Tecido Nervoso/genética
[Mh] Termos MeSH secundário: Processamento Alternativo/genética
Encefalopatias Metabólicas Congênitas/fisiopatologia
Criança
Coloboma/fisiopatologia
Opacidade da Córnea/fisiopatologia
Deficiências do Desenvolvimento/fisiopatologia
Homozigoto
Seres Humanos
Deficiência Intelectual/fisiopatologia
Masculino
Microcefalia/fisiopatologia
Microftalmia/fisiopatologia
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Proteins); 0 (Nerve Tissue Proteins); 0 (TENM3 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160423
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37667


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[PMID]:27074420
[Au] Autor:Sahebekhtiari N; Nielsen CB; Johannsen M; Palmfeldt J
[Ad] Endereço:Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and Aarhus University Hospital , Palle Juul-Jensens Boulevard 99, 8200 Aarhus N, Denmark.
[Ti] Título:Untargeted Metabolomics Analysis Reveals a Link between ETHE1-Mediated Disruptive Redox State and Altered Metabolic Regulation.
[So] Source:J Proteome Res;15(5):1630-8, 2016 May 06.
[Is] ISSN:1535-3907
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Defects in the gene encoding the persulfide dioxygenase ETHE1 are known to cause the severe inherited metabolic disorder ethylmalonic encephalopathy (EE). In spite of known clinical characteristics, the molecular mechanisms underlying the ETHE1 deficiency are still obscure. Herein, to further analyze the molecular phenotype of the disease, we applied an untargeted metabolomics approach on cultivated fibroblasts of EE patients for pinpointing alterations in metabolite levels. Metabolites, as direct signatures of biochemical functions, can decipher biochemical pathways involved in the cellular phenotype of patient cells. Using liquid chromatography-mass spectrometry-based untargeted metabolomics, we identified 18 metabolites that have altered levels in fibroblasts from EE patients. Our data demonstrate disrupted redox state in EE patient cells, which is reflected by significantly decreased level of reduced glutathione. Furthermore, the down-regulation of several intermediate metabolites such as the redox cofactors NAD(+) and NADH as well as Krebs cycle intermediates revealed clear alteration in metabolic regulation. Pantothenic acid and several amino acids exhibited decreased levels, whereas the ß-citrylglutamate with a putative role in brain development had an increased level in the EE patient cells. These observations indicate the severe impact of ETHE1 deficiency on cellular physiology and redox state, meanwhile suggesting targets for experimental studies on novel treatment options for the devastating metabolic disorder.
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/metabolismo
Metabolismo/genética
Metabolômica/métodos
Proteínas Mitocondriais/deficiência
Proteínas de Transporte Nucleocitoplasmático/deficiência
Púrpura/metabolismo
[Mh] Termos MeSH secundário: Encefalopatias Metabólicas Congênitas/etiologia
Células Cultivadas
Cromatografia Líquida
Regulação para Baixo
Fibroblastos/citologia
Regulação da Expressão Gênica
Seres Humanos
Oxirredução
Púrpura/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ETHE1 protein, human); 0 (Mitochondrial Proteins); 0 (Nucleocytoplasmic Transport Proteins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160414
[St] Status:MEDLINE
[do] DOI:10.1021/acs.jproteome.6b00100


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[PMID]:27001491
[Au] Autor:Martínez-Morillo E; Prieto García B; Álvarez Menéndez FV
[Ad] Endereço:Metabolic Diseases Laboratory, Laboratory of Medicine, Department of Clinical Biochemistry, Hospital Universitario Central de Asturias, Oviedo, Spain. edumartinezmorillo@gmail.com.
[Ti] Título:Challenges for Worldwide Harmonization of Newborn Screening Programs.
[So] Source:Clin Chem;62(5):689-98, 2016 May.
[Is] ISSN:1530-8561
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Inherited metabolic disorders (IMDs) are caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites. To date, hundreds of IMDs have been identified. Many of these diseases are potentially fatal conditions that are not apparent at birth. Newborn screening (NBS) programs involve the clinical and laboratory examination of neonates who exhibit no health problems, with the aim of discovering those infants who are, in fact, suffering from a treatable condition. CONTENT: In recent years, the introduction of tandem mass spectrometry has allowed the expansion of screening programs. However, this expansion has brought a high degree of heterogeneity in the IMDs tested among different NBS programs. An attempt to harmonize the metabolic conditions recommended to be screened has been carried out. Two uniform screening panels have been proposed in the US and European Union, by knowledgeable organizations. Here, we review current evidence-based processes to assess and expand NBS programs. We also discuss the IMDs that have recently been introduced in some screening programs, such as severe combined immunodeficiencies, lysosomal storage disorders, and adrenoleukodystrophy. SUMMARY: NBS programs have been an established public health function for more than 50 years to efficiently and cost-effectively identify neonates with severe conditions. However, NBS is not yet optimal. This review is intended to elucidate the current degree of harmonization of NBS programs worldwide as well as to describe the major controversial points and discuss the multiple challenges that must be confronted in expanded NBS strategies.
[Mh] Termos MeSH primário: Encefalopatias Metabólicas Congênitas/diagnóstico
Triagem Neonatal
[Mh] Termos MeSH secundário: Encefalopatias Metabólicas Congênitas/tratamento farmacológico
Encefalopatias Metabólicas Congênitas/metabolismo
Seres Humanos
Recém-Nascido
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170601
[Lr] Data última revisão:
170601
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160323
[St] Status:MEDLINE
[do] DOI:10.1373/clinchem.2015.240903



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