Complications Of Inborn Error Of Metabolism
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Inborn Error Of Metabolism List
of Further Outpatient CareFurther Inpatient CareTransferDeterrence/PreventionComplicationsPrognosisPatient Education Show All TablesReferencesFurther Outpatient CareMedical therapy specific for the inborn error of metabolism diagnosed will need to be continued, usually for life.[7, 9] Long-term, routine follow-up screening should be provided for potential disease complications.NextFurther Inpatient CareFurther inpatient care may include the following:Once toxic metabolites have been normalized, protein inborn error of metabolism diagnosis can be reintroduced using an essential amino acid solution, initially at 0.5-0.75 g/kg/d and gradually increased. For amino and organic acidopathies and urea cycle defects, protein intake should be restricted to 40-50% of recommended daily allowance (RDA). Lipids, 2-3 g/kg/d as 20% intralipid, can be given to increase caloric intake, but they are contraindicated for certain fatty acid oxidation defects. For patients able to tolerate enteral feeding, protein-restricted preparations (eg, Meade Johnson 80056) may be given.With definitive diagnosis, specific dietary regimens, available for most inborn errors of metabolism (IEMs), should be initiated.Pharmacologic therapy to increase activity of abnormal cofactor-dependent enzymes (eg, thiamine [B-1] 5-20 mg/d PO up to 500 mg/d, biotin 5-20 mg/d PO, riboflavin [B-2] 200-300 mg PO tid, cobalamin [B-12] 1-2 mg/d IM) may be given. Vitamins may be given empirically. Transplantation (organ or bone marrow)Enzyme replacement therapyGene therapyPreviousNextTransferPatients may require transfer to a tertiary care facility for further evaluation and treatment.Treatment to stabilize the patient should be initiated prior
Scientific and Technological Research Anesthetic complications in patients with inborn errors of metabolism undergoing non-cardiac surgery Complicaciones anestésicas
Inborn Error Of Metabolism Review
en pacientes con errores innatos del metabolismo sometidos a cirugía
Inborn Error Of Metabolism Definition
no cardiaca Marta Inés Berrío Valenciaa,, , Catalina María Martínez Ochoaa, Heisa Catalina Durango Gómezba Anesthesiologist, Hospital an inborn error of metabolism is caused by Pablo Tobón Uribe, Medellín, Colombiab Anesthesiologist Resident, Universidad Pontificia Bolivariana, Medellín, Colombia Received 04 November 2012, Accepted 14 May 2013 AbstractIntroductionInborn errors of metabolism are alterations http://emedicine.medscape.com/article/804757-followup in one or more steps in a metabolic pathway. They are associated with multisystem complications and have a high impact on the quality of life of patients. Enzyme replacement has extended life, hence the importance of recognizing the most frequent anesthetic complications. ObjectiveTo describe the complications of anesthetic management in pediatric patients with inborn errors http://www.revcolanest.com.co/en/anesthetic-complications-in-patients-with/articulo/S2256208713000394/ of metabolism undergoing non-cardiac surgery. MethodsRetrospective descriptive observational case series of pediatric patients with inborn errors of metabolism undergoing non-cardiac surgery at the Pablo Tobón Uribe Hospital between 2008 and 2011, and their anesthetic outcomes. ResultsThe most frequent inborn error of metabolism was glycogen storage disease type III in 7 (37%), followed by nonketotic hyperglycinemia in 4 (21%). There were 2 (6%) anesthetic complications in the immediate post-operative period in patients with nonketotic hyperglycinemia, with seizures in one case and the need for mechanical ventilation in another. ConclusionsLow-risk procedures probably explain why there were few complications. It was found that seizures and respiratory insufficiency are potential perioperative complications in nonketotic hyperglycinemia.ResumenIntroducciónlos errores innatos del metabolismo son alteraciones en uno o varios pasos de alguna vía metabólica que se asocian a complicaciones multisistémicas y tienen alto impacto en la calidad de vida de los pacientes. El reemplazo enzimático ha prolongado la vida, por lo que se hace importante reconocer las complicaciones anestésicas
& Bioassays Resources...DNA & RNABLAST (Basic Local Alignment http://www.ncbi.nlm.nih.gov/pubmed/823933 Search Tool)BLAST (Stand-alone)E-UtilitiesGenBankGenBank: BankItGenBank: SequinGenBank: tbl2asnGenome WorkbenchInfluenza VirusNucleotide DatabasePopSetPrimer-BLASTProSplignReference Sequence (RefSeq)RefSeqGeneSequence Read Archive (SRA)SplignTrace ArchiveUniGeneAll DNA http://www.ncbi.nlm.nih.gov/pubmed/19731074 & RNA Resources...Data & SoftwareBLAST (Basic Local Alignment Search Tool)BLAST (Stand-alone)Cn3DConserved Domain Search Service (CD inborn error Search)E-UtilitiesGenBank: BankItGenBank: SequinGenBank: tbl2asnGenome ProtMapGenome WorkbenchPrimer-BLASTProSplignPubChem Structure SearchSNP Submission ToolSplignVector Alignment Search Tool (VAST)All Data & Software Resources...Domains & StructuresBioSystemsCn3DConserved Domain Database (CDD)Conserved Domain Search Service (CD Search)Structure (Molecular Modeling Database)Vector Alignment inborn error of Search Tool (VAST)All Domains & Structures Resources...Genes & ExpressionBioSystemsDatabase of Genotypes and Phenotypes (dbGaP)E-UtilitiesGeneGene Expression Omnibus (GEO) Database Gene Expression Omnibus (GEO) DatasetsGene Expression Omnibus (GEO) ProfilesGenome WorkbenchHomoloGeneMap ViewerOnline Mendelian Inheritance in Man (OMIM)RefSeqGeneUniGeneAll Genes & Expression Resources...Genetics & MedicineBookshelfDatabase of Genotypes and Phenotypes (dbGaP)Genetic Testing RegistryInfluenza VirusMap ViewerOnline Mendelian Inheritance in Man (OMIM)PubMedPubMed Central (PMC)PubMed Clinical QueriesRefSeqGeneAll Genetics & Medicine Resources...Genomes & MapsDatabase of Genomic Structural Variation (dbVar)GenBank: tbl2asnGenomeGenome ProjectGenome ProtMapGenome WorkbenchInfluenza VirusMap ViewerNucleotide DatabasePopSetProSplignSequence Read Archive (SRA)SplignTrace ArchiveAll Genomes & Maps Resources...HomologyBLAST (Basic Local Alignment Search Tool)BLAST (Stand-alone)BLAST Link (BLink)Conserved Domain Database
& Bioassays Resources...DNA & RNABLAST (Basic Local Alignment Search Tool)BLAST (Stand-alone)E-UtilitiesGenBankGenBank: BankItGenBank: SequinGenBank: tbl2asnGenome WorkbenchInfluenza VirusNucleotide DatabasePopSetPrimer-BLASTProSplignReference Sequence (RefSeq)RefSeqGeneSequence Read Archive (SRA)SplignTrace ArchiveUniGeneAll DNA & RNA Resources...Data & SoftwareBLAST (Basic Local Alignment Search Tool)BLAST (Stand-alone)Cn3DConserved Domain Search Service (CD Search)E-UtilitiesGenBank: BankItGenBank: SequinGenBank: tbl2asnGenome ProtMapGenome WorkbenchPrimer-BLASTProSplignPubChem Structure SearchSNP Submission ToolSplignVector Alignment Search Tool (VAST)All Data & Software Resources...Domains & StructuresBioSystemsCn3DConserved Domain Database (CDD)Conserved Domain Search Service (CD Search)Structure (Molecular Modeling Database)Vector Alignment Search Tool (VAST)All Domains & Structures Resources...Genes & ExpressionBioSystemsDatabase of Genotypes and Phenotypes (dbGaP)E-UtilitiesGeneGene Expression Omnibus (GEO) Database Gene Expression Omnibus (GEO) DatasetsGene Expression Omnibus (GEO) ProfilesGenome WorkbenchHomoloGeneMap ViewerOnline Mendelian Inheritance in Man (OMIM)RefSeqGeneUniGeneAll Genes & Expression Resources...Genetics & MedicineBookshelfDatabase of Genotypes and Phenotypes (dbGaP)Genetic Testing RegistryInfluenza VirusMap ViewerOnline Mendelian Inheritance in Man (OMIM)PubMedPubMed Central (PMC)PubMed Clinical QueriesRefSeqGeneAll Genetics & Medicine Resources...Genomes & MapsDatabase of Genomic Structural Variation (dbVar)GenBank: tbl2asnGenomeGenome ProjectGenome ProtMapGenome WorkbenchInfluenza VirusMap ViewerNucleotide DatabasePopSetProSplignSequence Read Archive (SRA)SplignTrace ArchiveAll Genomes & Maps Resources...HomologyBLAST (Basic Local Alignment Search Tool)BLAST (Stand-alone)BLAST Link (BLink)Conserved Domain Database (CDD)Conserved Domain Search Service (CD Search)Genome ProtMapHomoloGeneProtein ClustersAll Homology Resources...LiteratureBookshelfE-UtilitiesJournals in NCBI DatabasesMeSH DatabaseNCBI HandbookNCBI Help ManualNCBI NewsPubMedPubMed Central (PMC)PubMed Clinical QueriesPubMed HealthAll Literature Resources...Prote