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[PMID]:27771289
[Au] Autor:Dercksen M; Duran M; IJlst L; Kulik W; Ruiter JP; van Cruchten A; Tuchman M; Wanders RJ
[Ad] Endereço:Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Human Metabonomics, North-West University, Potchefstroom Campus, South Africa. Electronic address: marli.dercksen@nwu.ac.za.
[Ti] Título:A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.
[So] Source:Mol Genet Metab;119(4):307-310, 2016 12.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: N-acetylglutamate synthase (NAGS) plays a key role in the removal of ammonia via the urea cycle by catalyzing the synthesis of N-acetylglutamate (NAG), the obligatory cofactor in the carbamyl phosphate synthetase 1 reaction. Enzymatic analysis of NAGS in liver homogenates has remained insensitive and inaccurate, which prompted the development of a novel method. METHODS: UPLC-MS/MS was used in conjunction with stable isotope (N-acetylglutamic-2,3,3,4,4-d acid) dilution for the quantitative detection of NAG produced by the NAGS enzyme. The assay conditions were optimized using purified human NAGS and the optimized enzyme conditions were used to measure the activity in mouse liver homogenates. RESULTS: A low signal-to-noise ratio in liver tissue samples was observed due to non-enzymatic formation of N-acetylglutamate and low specific activity, which interfered with quantitative analysis. Quenching of acetyl-CoA immediately after the incubation circumvented this analytical difficulty and allowed accurate and sensitive determination of mammalian NAGS activity. The specificity of the assay was validated by demonstrating a complete deficiency of NAGS in liver homogenates from Nags -/- mice. CONCLUSION: The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment.
[Mh] Termos MeSH primário: Aminoácido N-Acetiltransferase/genética
Carbamoil-Fosfato Sintase (Amônia)/genética
Hiperamonemia/diagnóstico
Distúrbios Congênitos do Ciclo da Ureia/diagnóstico
[Mh] Termos MeSH secundário: Acetilcoenzima A/metabolismo
Aminoácido N-Acetiltransferase/metabolismo
Animais
Carbamoil-Fosfato Sintase (Amônia)/deficiência
Seres Humanos
Hiperamonemia/genética
Hiperamonemia/metabolismo
Hiperamonemia/fisiopatologia
Fígado/enzimologia
Camundongos
Camundongos Knockout
Espectrometria de Massas em Tandem
Distúrbios Congênitos do Ciclo da Ureia/genética
Distúrbios Congênitos do Ciclo da Ureia/metabolismo
Distúrbios Congênitos do Ciclo da Ureia/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
72-89-9 (Acetyl Coenzyme A); EC 2.3.1.1 (Amino-Acid N-Acetyltransferase); EC 2.3.1.1 (NAGS protein, human); EC 6.3.4.16 (Carbamoyl-Phosphate Synthase (Ammonia))
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE


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[PMID]:28592010
[Au] Autor:Guan HZ; Ding Y; Li DX; Dong H; Song JQ; Jin Y; Zhu ZJ; Sun LY; Yang YL
[Ad] Endereço:Department of Neonatology, Shanxi Provincial Children's Hospital, Taiyuan 030013, China.
[Ti] Título:[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].
[So] Source:Zhonghua Er Ke Za Zhi;55(6):428-433, 2017 Jun 02.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To study the clinical characteristics, methods of diagnosis and treatment of hyperornithinemia-hyperammonemia- homocitrullinuria (HHH) syndrome. From July 2011 to August 2016, 3 Chinese patients with HHH syndrome were enrolled in this study. The clinical course, biochemical features, brain MRI findings, and gene mutations were analyzed. The three patients' age at onset of symptoms was 3 months to 7 years, and the age of diagonosis was 3 years and 10 months to 9 years and 10 months. All of them presented with intolerance to protein-rich foods from the infant period, development retardation and abnormal posture. Case 1 and 2 had moderate mental retardation. Serum ammonia 25-276 µmol/L (reference range<60 µmol/L), alanine aminotransferase (ALT) 20-139 IU/L (reference range 9-50 IU/L), ornithine 29.12-99.44 µmol/L(reference range 15-100 µmol/L), urinary orotic acid 1.49-29.75 mmol/mol Cr (reference range 0-7 mmol/mol Cr), uracil 6.09-103.97 mmol/mol Cr (reference range 0-1.5 mmol/mol Cr). The cranial MRI revealed lesions in the basal ganglia, abnormal white matter signal, progressive demyelination and cerebral atrophy. On their SLC25A15 gene, a novel homozygous missense mutation c. 416A>G (p.E139G) was identified in case 1, a known pathogenic homozygous nonsense mutation c. 535C>T was found in case 2 and 3. Liver transplantation had been performed when case 1 was 6 years old. Significant improvements were observed in dietary habit, mental and motor functions, and biochemical parameters. After the dietary intervention with the supplements of arginine, L-carnitine, case 2 was improved, spastic paraplegia of case 3 had no mitigation. Liver transplant was recommended. HHH syndrome has an aversion to protein-rich food, and the patients have recurrent vomiting and progressive neurological dysfunction. Clinical diagnosis of HHH syndrome is difficult and patients may present with incomplete biochemical phenotype. The genetic analysis is key for the diagnosis. Depending on their condition, individuals with HHH syndrome can be treated with a low-protein diet, drugs and liver transplantation.
[Mh] Termos MeSH primário: Dieta com Restrição de Proteínas
Hiperamonemia/diagnóstico
Mutação
Ornitina/deficiência
Fenótipo
Distúrbios Congênitos do Ciclo da Ureia/diagnóstico
[Mh] Termos MeSH secundário: Arginina
Grupo com Ancestrais do Continente Asiático
Carnitina
Criança
Pré-Escolar
Testes Genéticos
Homozigoto
Seres Humanos
Lactente
Ornitina/uso terapêutico
Ácido Orótico
Proteínas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proteins); 61H4T033E5 (Orotic Acid); 94ZLA3W45F (Arginine); E524N2IXA3 (Ornithine); S7UI8SM58A (Carnitine)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.06.007


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[PMID]:28281899
[Au] Autor:Diez-Fernandez C; Häberle J
[Ad] Endereço:a Division of Metabolism , University Children's Hospital Zurich and Children's Research Center , Zurich , Switzerland.
[Ti] Título:Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
[So] Source:Expert Opin Ther Targets;21(4):391-399, 2017 Apr.
[Is] ISSN:1744-7631
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving patients. Over recent decades, therapies for CPS1D have barely improved leaving the management of these patients largely unchanged. Additionally, in many cases, current management (protein-restriction and supplementation with citrulline and/or arginine and ammonia scavengers) is insufficient for achieving metabolic stability, highlighting the importance of developing alternative therapeutic approaches. Areas covered: After describing UCDs and CPS1D, we give an overview of the structure- function of CPS1. We then describe current management and potential novel treatments including N-carbamoyl-L-glutamate (NCG), pharmacological chaperones, and gene therapy to treat hyperammonemia. Expert opinion: Probably, the first novel CPS1D therapies to reach the clinics will be the already commercial substance NCG, which is the standard treatment for N-acetylglutamate synthase deficiency and has been proven to rescue specific CPS1D mutations. Pharmacological chaperones and gene therapy are under development too, but these two technologies still have key challenges to be overcome. In addition, current experimental therapies will hopefully add further treatment options.
[Mh] Termos MeSH primário: Carbamoil-Fosfato Sintase (Amônia)/metabolismo
Doença da Deficiência da Carbamoil-Fosfato Sintase I/terapia
Glutamatos/uso terapêutico
[Mh] Termos MeSH secundário: Animais
Carbamoil-Fosfato Sintase (Amônia)/genética
Doença da Deficiência da Carbamoil-Fosfato Sintase I/genética
Doença da Deficiência da Carbamoil-Fosfato Sintase I/fisiopatologia
Terapia Genética/métodos
Seres Humanos
Chaperonas Moleculares/farmacologia
Mutação
Distúrbios Congênitos do Ciclo da Ureia/fisiopatologia
Distúrbios Congênitos do Ciclo da Ureia/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Glutamates); 0 (Molecular Chaperones); 1188-38-1 (N-carbamylglutamate); EC 6.3.4.16 (Carbamoyl-Phosphate Synthase (Ammonia))
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170605
[Lr] Data última revisão:
170605
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE
[do] DOI:10.1080/14728222.2017.1294685


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[PMID]:28205048
[Au] Autor:Wortmann SB; Chen MA; Colombo R; Pontoglio A; Alhaddad B; Botto LD; Yuzyuk T; Coughlin CR; Descartes M; Grunewald S; Maranda B; Mills PB; Pitt J; Potente C; Rodenburg R; Kluijtmans LA; Sampath S; Pai EF; Wevers RA; Tiller GE; and additional individual contributors
[Ad] Endereço:Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Mullner Hauptstrasse 48, 5020, Salzburg, Austria. s.wortmann-hagemann@salk.at.
[Ti] Título:Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
[So] Source:J Inherit Metab Dis;40(3):423-431, 2017 May.
[Is] ISSN:1573-2665
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life. If not treated with the pyrimidine precursor uridine, neutropenia, failure to thrive, growth retardation, developmental delay, and intellectual disability may ensue. METHODS AND RESULTS: We identified mild and isolated orotic aciduria in 11 unrelated individuals with diverse clinical signs and symptoms, the most common denominator being intellectual disability/developmental delay. Of note, none had blood count abnormalities, relevant hyperammonemia or altered plasma amino acid profile. All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with complete loss of function. The remaining variants were missense changes and predicted to be damaging to the normal encoded protein. Interestingly, family screening revealed heterozygous UMPS variants in combination with mild orotic aciduria in 19 clinically asymptomatic family members. CONCLUSIONS: We therefore conclude that heterozygous UMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hypotonia and developmental delay are likely due to ascertainment bias.
[Mh] Termos MeSH primário: Complexos Multienzimáticos/genética
Complexos Multienzimáticos/metabolismo
Orotato Fosforribosiltransferase/deficiência
Orotidina-5´-Fosfato Descarboxilase/deficiência
Erros Inatos do Metabolismo da Purina-Pirimidina/metabolismo
[Mh] Termos MeSH secundário: Anemia Megaloblástica/genética
Anemia Megaloblástica/metabolismo
Criança
Pré-Escolar
Feminino
Heterozigoto
Seres Humanos
Lactente
Deficiência Intelectual/genética
Deficiência Intelectual/metabolismo
Masculino
Mutação/genética
Orotato Fosforribosiltransferase/genética
Orotato Fosforribosiltransferase/metabolismo
Ácido Orótico/metabolismo
Orotidina-5'-Fosfato Descarboxilase/genética
Orotidina-5'-Fosfato Descarboxilase/metabolismo
Erros Inatos do Metabolismo da Purina-Pirimidina/genética
Pirimidinas/metabolismo
Distúrbios Congênitos do Ciclo da Ureia/genética
Distúrbios Congênitos do Ciclo da Ureia/metabolismo
Uridina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Multienzyme Complexes); 0 (Pyrimidines); 61H4T033E5 (Orotic Acid); 74870-74-9 (uridine 5'-monophosphate synthase); EC 2.4.2.10 (Orotate Phosphoribosyltransferase); EC 4.1.1.23 (Orotidine-5'-Phosphate Decarboxylase); K8CXK5Q32L (pyrimidine); WHI7HQ7H85 (Uridine)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170217
[St] Status:MEDLINE
[do] DOI:10.1007/s10545-017-0015-9


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[PMID]:27860485
[Au] Autor:De Las Heras J; Aldámiz-Echevarría L; Martínez-Chantar ML; Delgado TC
[Ad] Endereço:a Division of Pediatric Metabolism , University Hospital of Cruces , Barakaldo , Spain.
[Ti] Título:An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease.
[So] Source:Expert Opin Drug Metab Toxicol;13(4):439-448, 2017 Apr.
[Is] ISSN:1744-7607
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Ammonia-scavenging drugs, benzoate and phenylacetate (PA)/phenylbutyrate (PB), modulate hepatic nitrogen metabolism mainly by providing alternative pathways for nitrogen disposal. Areas covered: We review the major findings and potential novel applications of ammonia-scavenging drugs, focusing on urea cycle disorders and liver disease. Expert opinion: For over 40 years, ammonia-scavenging drugs have been used in the treatment of urea cycle disorders. Recently, the use of these compounds has been advocated in acute liver failure and cirrhosis for reducing hyperammonemic-induced hepatic encephalopathy. The efficacy and mechanisms underlying the antitumor effects of these ammonia-scavenging drugs in liver cancer are more controversial and are discussed in the review. Overall, as ammonia-scavenging drugs are usually safe and well tolerated among cancer patients, further studies should be instigated to explore the role of these drugs in liver cancer. Considering the relevance of glutamine metabolism to the progression and resolution of liver disease, we propose that ammonia-scavenging drugs might also be used to non-invasively probe liver glutamine metabolism in vivo. Finally, novel derivatives of classical ammonia-scavenging drugs with fewer and less severe adverse effects are currently being developed and used in clinical trials for the treatment of acute liver failure and cirrhosis.
[Mh] Termos MeSH primário: Amônia/metabolismo
Hepatopatias/tratamento farmacológico
Distúrbios Congênitos do Ciclo da Ureia/tratamento farmacológico
[Mh] Termos MeSH secundário: Animais
Benzoatos/metabolismo
Desenho de Drogas
Glutamina/metabolismo
Seres Humanos
Cirrose Hepática/tratamento farmacológico
Cirrose Hepática/fisiopatologia
Hepatopatias/fisiopatologia
Falência Hepática Aguda/tratamento farmacológico
Falência Hepática Aguda/fisiopatologia
Nitrogênio/metabolismo
Fenilacetatos/metabolismo
Fenilbutiratos/metabolismo
Distúrbios Congênitos do Ciclo da Ureia/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Benzoates); 0 (Phenylacetates); 0 (Phenylbutyrates); 0RH81L854J (Glutamine); 7664-41-7 (Ammonia); N762921K75 (Nitrogen)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170826
[Lr] Data última revisão:
170826
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.1080/17425255.2017.1262843


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[PMID]:27834067
[Au] Autor:Choi R; Park HD; Yang M; Ki CS; Lee SY; Kim JW; Song J; Chang YS; Park WS
[Ad] Endereço:Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
[Ti] Título:Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.
[So] Source:Ann Lab Med;37(1):58-62, 2017 Jan.
[Is] ISSN:2234-3814
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole exome sequencing (WES). A four-day-old female neonate presented with respiratory failure due to severe metabolic encephalopathy with hyperammonemia (1,690 µmol/L; reference range, 11.2-48.2 µmol/L). Plasma amino acid analysis revealed markedly elevated levels of alanine (2,923 µmol/L; reference range, 131-710 µmol/L) and glutamine (5,777 µmol/L; reference range, 376-709 µmol/L), whereas that of citrulline was decreased (2 µmol/L; reference range, 10-45 µmol/L). WES revealed compound heterozygous pathogenic variants in the CPS1 gene: one novel nonsense pathogenic variant of c.580C>T (p.Gln194*) and one known pathogenic frameshift pathogenic variant of c.1547delG (p.Gly516Alafs*5), which was previously reported in Japanese patients with CPS1D. We successfully applied WES to molecularly diagnose the first Korean patient with CPS1D in a clinical setting. This result supports the clinical applicability of WES for cost-effective molecular diagnosis of UCDs.
[Mh] Termos MeSH primário: Carbamoil-Fosfato Sintase (Amônia)/genética
Doença da Deficiência da Carbamoil-Fosfato Sintase I/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Carbamoil-Fosfato Sintase (Amônia)/química
Doença da Deficiência da Carbamoil-Fosfato Sintase I/diagnóstico
Códon sem Sentido
Éxons
Feminino
Mutação da Fase de Leitura
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Recém-Nascido
República da Coreia
Análise de Sequência de DNA
Distúrbios Congênitos do Ciclo da Ureia/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); EC 6.3.4.16 (Carbamoyl-Phosphate Synthase (Ammonia))
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161112
[St] Status:MEDLINE
[do] DOI:10.3343/alm.2017.37.1.58


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[PMID]:27613354
[Au] Autor:Tanaka K; Nakamura K; Matsumoto S; Kido J; Mitsubuchi H; Ohura T; Endo F
[Ad] Endereço:Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
[Ti] Título:Citrulline for urea cycle disorders in Japan.
[So] Source:Pediatr Int;59(4):422-426, 2017 Apr.
[Is] ISSN:1442-200X
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The amino acid l-citrulline is used as a therapeutic agent for urea cycle disorders (UCD) including ornithine transcarbamylase deficiency (OTCD), carbamoyl phosphate synthetase I deficiency (CPSD), and N-acetylglutamate synthase deficiency. There are few reports, however, on the use of l-citrulline in Japan and little consensus regarding the effects of l-citrulline. METHODS: We conducted a questionnaire survey of patients undergoing l-citrulline treatment for a UCD to evaluate the current status of this therapy. The survey included patient background, details of l-citrulline treatment, clinical examination data, treatment, frequency of vomiting, and liver transplantation. RESULTS: We retrospectively investigated 43 questionnaire respondents (OTCD, n = 33; CPSD, n = 10). The weight of male OTCD patients improved by +0.79 SD, and the ammonia level decreased by a mean of 44.3 µmol/L in all patients. The protein intake of all patients and of male OTCD patients increased by 0.14 g/kg/day and 0.17 g/kg/day, respectively. CONCLUSIONS: l-Citrulline effectively reduced ammonia level, increased protein intake, and improved weight gain in UCD patients. l-Citrulline should be considered a standard therapy in OTCD and CPSD patients.
[Mh] Termos MeSH primário: Citrulina/uso terapêutico
Distúrbios Congênitos do Ciclo da Ureia/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Dieta
Proteínas na Dieta
Feminino
Inquéritos Epidemiológicos
Seres Humanos
Lactente
Japão
Masculino
Estudos Retrospectivos
Resultado do Tratamento
Ganho de Peso
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dietary Proteins); 29VT07BGDA (Citrulline)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160911
[St] Status:MEDLINE
[do] DOI:10.1111/ped.13163


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[PMID]:27564695
[Au] Autor:Pichler K; Michel M; Zlamy M; Scholl-Buergi S; Ralser E; Jörg-Streller M; Karall D
[Ad] Endereço:Department of Pediatrics, Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Medical University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna.
[Ti] Título:Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience.
[So] Source:J Perinat Med;45(3):375-382, 2017 Apr 01.
[Is] ISSN:1619-3997
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Published data on breast milk feeding in infants suffering from inherited metabolic disorders (IMDs) other than phenylketonuria (PKU) are limited and described outcome is variable. OBJECTIVE: We aimed to evaluate retrospectively whether breastfeeding and/or breast milk feeding are feasible in infants with IMDs including organic acidemias, fatty acid oxidation disorders, urea cycle disorders, aminoacidopathies or disorders of galactose metabolism. METHODS: Data on breastfeeding and breast milk feeding as well as monitoring and neurological outcome were collected retrospectively from our database of patients with the mentioned IMD, who were followed in our metabolic center within the last 10 years. RESULTS: Twenty patients were included in the study, who were either breast fed on demand or received expressed breast milk. All the infants were evaluated clinically and biochemically at 2-4-week intervals, with weight gain as the leading parameter to determine metabolic control. Good metabolic control and adequate neurological development were achieved in all patients but one, who experienced the only metabolic crisis observed within the study period. CONCLUSION: Breast milk feeding with close clinical and biochemical monitoring is feasible in most IMD and should be considered as it offers nutritional and immunological benefits.
[Mh] Termos MeSH primário: Aleitamento Materno
Erros Inatos do Metabolismo/dietoterapia
Leite Humano
[Mh] Termos MeSH secundário: Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo
Erros Inatos do Metabolismo dos Carboidratos/dietoterapia
Erros Inatos do Metabolismo dos Carboidratos/metabolismo
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Recém-Nascido
Erros Inatos do Metabolismo Lipídico/dietoterapia
Erros Inatos do Metabolismo Lipídico/metabolismo
Masculino
Erros Inatos do Metabolismo/metabolismo
Estudos Retrospectivos
Distúrbios Congênitos do Ciclo da Ureia/dietoterapia
Distúrbios Congênitos do Ciclo da Ureia/metabolismo
Ganho de Peso
[Pt] Tipo de publicação:JOURNAL ARTICLE
[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:160827
[St] Status:MEDLINE


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[PMID]:28062886
[Au] Autor:Qadri SK; Ting TW; Lim JS; Jamuar SS
[Ad] Endereço:Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
[Ti] Título:Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy.
[So] Source:Ann Acad Med Singapore;45(12):563-566, 2016 Dec.
[Is] ISSN:0304-4602
[Cp] País de publicação:Singapore
[La] Idioma:eng
[Mh] Termos MeSH primário: Encefalopatias/diagnóstico
Hiperamonemia/diagnóstico
Ornitina/deficiência
Distúrbios Congênitos do Ciclo da Ureia/diagnóstico
[Mh] Termos MeSH secundário: Sistemas de Transporte de Aminoácidos Básicos/genética
Encefalopatias/etiologia
Criança
Análise Mutacional de DNA
Dieta com Restrição de Proteínas
Feminino
Seres Humanos
Hiperamonemia/complicações
Hiperamonemia/dietoterapia
Hiperamonemia/genética
Ornitina/genética
Recidiva
Índice de Gravidade de Doença
Distúrbios Congênitos do Ciclo da Ureia/complicações
Distúrbios Congênitos do Ciclo da Ureia/dietoterapia
Distúrbios Congênitos do Ciclo da Ureia/genética
[Pt] Tipo de publicação:CASE REPORTS; LETTER; REVIEW
[Nm] Nome de substância:
0 (Amino Acid Transport Systems, Basic); 0 (SLC25A15 protein, human); E524N2IXA3 (Ornithine)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170221
[Lr] Data última revisão:
170221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170108
[St] Status:MEDLINE


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[PMID]:27577216
[Au] Autor:Xie B; Luo J; Lei Y; Chen R; Wang J; Zhang S; Fan X; Li W; Chen S
[Ad] Endereço:Department of Genetic Metabolism, Maternal and Children Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China. Email: chenshaoke123@163.com.
[Ti] Título:[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(5):657-61, 2016 Oct.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening. METHODS: PCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant. RESULTS: For the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein. CONCLUSION: The compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.
[Mh] Termos MeSH primário: Carbono-Carbono Ligases/deficiência
Carbono-Carbono Ligases/genética
Mutação
Distúrbios Congênitos do Ciclo da Ureia/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Sequência de Bases
Carbono-Carbono Ligases/química
Análise Mutacional de DNA
Heterozigoto
Seres Humanos
Recém-Nascido
Masculino
Modelos Moleculares
Triagem Neonatal/métodos
Conformação Proteica
Homologia de Sequência de Aminoácidos
Distúrbios Congênitos do Ciclo da Ureia/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 6.4.- (Carbon-Carbon Ligases); EC 6.4.1.4 (methylcrotonoyl-CoA carboxylase 1, human)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170105
[Lr] Data última revisão:
170105
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160901
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2016.05.017



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