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Inborn Errors of Metabolism

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21. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review (Full text)

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children. The mechanism of how IEM could lead to diabetes is unclear; however, the postulated pathogenesis consists of three mechanisms: 1

2018 Sudanese journal of paediatrics PubMed abstract

22. Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. (Abstract)

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. Inborn errors of metabolism (IEM) commonly present in infancy and, less commonly, later in life.This case describes an IEM, specifically, ornithine transcarbamylase deficiency, in a previously healthy 7-year-old boy who presented to an emergency department with vomiting for approximately 24 h prior to admission. The child became progressively encephalopathic while in the emergency

2018 Journal of Emergency Medicine

23. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China. (Full text)

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China. Mandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM). Methods of screening for IEM by tandem mass spectrometry (MS/MS) have been developed, and their advantages include rapid testing, high sensitivity, high (...) specificity, high throughput, and low sample volume (a single dried blood spot).Dried blood spots of 100,077 newborns obtained from Jining city in 2014-2015 were screened by MS/MS. The screening results were further confirmed by clinical symptoms and biochemical analysis in combination with the detection of neonatal deficiency in organic acid, amino acid, or fatty acid metabolism and DNA analysis.The percentages of males and females among the 100,077 infants were 54.1% and 45.9%, respectively. Cut-off

2018 BMC Pediatrics PubMed abstract

24. Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism. (Full text)

Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism. Inborn errors of metabolism in adults are still largely unexplored. Despite the fact that adult-onset phenotypes have been known for many years, little attention is given to these disorders in neurological practice. The adult-onset presentation differs from childhood-onset phenotypes, often leading to considerable diagnostic delay. The identification of these patients at the earliest stage of disease (...) the natural course of disease or the response to therapies. Here, we review, for the first time, eye movement disorders that can occur in inborn errors of metabolism, with a focus on late-onset forms. We provide a step-by-step overview that will help clinicians to examine and interpret eye movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.© 2018 The Authors. Movement Disorders published

2018 Movement Disorders PubMed abstract

25. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence (Full text)

Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence Inborn errors of metabolism (IEM) are a group of over 500 heterogeneous disorders resulting from a defect in functioning of an intermediate metabolic pathway. Individually rare, their cumulative incidence is thought to be high, but it has not yet been estimated globally. Although outcomes can often be good if recognised early, IEM carry a high fatality rate if not diagnosed. As a result

2018 Journal of global health PubMed abstract

26. Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland

Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before (...) adding more. Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03534752 Recruitment Status : Recruiting First Posted : May 23, 2018 Last

2018 Clinical Trials

27. “Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing (Full text)

“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders. However, the diagnostic yield of 25-60% still leaves a large fraction of individuals without a diagnosis. This indicates a causative role for non-exonic regulatory variants not covered by whole exome sequencing. Here we review how systematic RNA

2018 Journal of Inherited Metabolic Disease PubMed abstract

28. Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis (Full text)

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis Phenomics is the comprehensive study of phenotypes at every level of biology: from metabolites to organisms. With high throughput technologies increasing the scope of biological discoveries, the field of phenomics has been developing rapid and precise methods to collect, catalog, and analyze phenotypes. Such methods have allowed phenotypic data to be widely used (...) in medical applications, from assisting clinical diagnoses to prioritizing genomic diagnoses. To channel the benefits of phenomics into the field of inborn errors of metabolism (IEM), we have recently launched IEMbase, an expert-curated knowledgebase of IEM and their disease-characterizing phenotypes. While our efforts with IEMbase have realized benefits, taking full advantage of phenomics requires a comprehensive curation of IEM phenotypes in core phenomics projects, which is dependent upon

2018 Journal of Inherited Metabolic Disease PubMed abstract

29. Inborn errors of metabolism and the human interactome: a systems medicine approach (Full text)

Inborn errors of metabolism and the human interactome: a systems medicine approach The group of inborn errors of metabolism (IEM) displays a marked heterogeneity and IEM can affect virtually all functions and organs of the human organism; however, IEM share that their associated proteins function in metabolism. Most proteins carry out cellular functions by interacting with other proteins, and thus are organized in biological networks. Therefore, diseases are rarely the consequence of single

2018 Journal of Inherited Metabolic Disease PubMed abstract

30. Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism (Full text)

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism Since organic acid analysis in urine with gaschromatography-mass spectrometry (GC-MS) is a time-consuming technique, we developed a new liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-QTOF/MS) method to replace the classical analysis for diagnosis of inborn errors of metabolism (IEM). Sample preparation is simple and experimental time short (...) . Targeted mass extraction and automatic calculation of z-scores generated profiles characteristic for the IEMs in our panel consisting of 71 biomarkers for defects in amino acids, neurotransmitters, fatty acids, purine, and pyrimidine metabolism as well as other disorders. In addition, four medication-related metabolites were included in the panel. The method was validated to meet Dutch NEN-EN-ISO 15189 standards. Cross validation of 24 organic acids from 28 urine samples of the ERNDIM scheme showed

2018 Journal of Inherited Metabolic Disease PubMed abstract

31. A gray area for reimbursement: medical foods for non-inborn errors of metabolism. (Abstract)

A gray area for reimbursement: medical foods for non-inborn errors of metabolism. The use of medical foods (MFs) specifically for non-inborn errors of metabolism (non-IEM) is rising. Concomitantly, evidence for the safety and efficacy of these non-IEM MFs is lacking. We examined the current use and costs of non-IEM MFs and determined whether the scientific evidence supporting their effectiveness and medical utility is adequate to warrant public reimbursement.We employed a qualitative literature

2018 American Journal Of Managed Care

32. Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism (Full text)

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking (...) and comparing the performance of deep-learned classification processes is inherently difficult. For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysaccharidosis type I and II that are known for their wide and overlapping phenotypic spectra. For a dysmorphic comparison we used Smith-Lemli-Opitz syndrome as another inborn error of metabolism and Nicolaides-Baraitser syndrome as another disorder that is also characterized by coarse

2018 Journal of Inherited Metabolic Disease PubMed abstract

33. Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism (Full text)

Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways. With the increasing expansion of metabolomics in clinical biochemistry and laboratory medicine communities, several research groups have focused their interest (...) on the analysis of metabolites and their interconnections in IEMs. Metabolomics has the potential to extend metabolic information, thus allowing to achieve an accurate diagnosis for the individual patient and to discover novel IEMs. Structural and functional information on 247 metabolites associated with 147 IEMs and 202 metabolic pathways involved in various IEMs have been reported in the human metabolome data base (HMDB). For each metabolic gene, a new computational approach can be developed for predicting

2018 Annals of Translational Medicine PubMed abstract

34. Psychiatric manifestations of inborn errors of metabolism. A systematic review.

Psychiatric manifestations of inborn errors of metabolism. A systematic review. Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email (...) is planned , please specify the following:"> Example: number of metastases: standardized mean difference; incidence of metastasis: risk ratio. ">Effect measure The random-effects model is the typical model of choice for pre-clinical meta-analyses. This is because in the fixed-effect model, it is assumed that the differences in observed effect between studies is solely due to sampling error (i.e. differences in sample size), and that the true effect is the same (fixed) across all studies. However

2020 PROSPERO

35. The liver is a metabolic and immunologic organ: a reconsideration of metabolic decompensation due to infection in inborn errors of metabolism (IEM) (Full text)

The liver is a metabolic and immunologic organ: a reconsideration of metabolic decompensation due to infection in inborn errors of metabolism (IEM) Metabolic decompensation in inborn errors of metabolism (IEM) is characterized by a rapid deterioration in metabolic status leading to life-threatening biochemical perturbations (e.g. hypoglycemia, hyperammonemia, acidosis, organ failure). Infection is the major cause of metabolic decompensation in patients with IEM. We hypothesized that activation (...) of the immune system during infection leads to further perturbations in end-organ metabolism resulting in increased morbidity. To address this, we established model systems of metabolic decompensation due to infection. Using these systems, we have described the pathologic mechanisms of metabolic decompensation as well as changes in hepatic metabolic reserve associated with infection. First and foremost, our studies have demonstrated that the liver experiences a significant local innate immune response

2017 Molecular genetics and metabolism PubMed abstract

36. [Clinical effectiveness of newborn screening for inborn errors of metabolism using mass spectrometry: Maple Syrup Urine Disease, Homocystinuria, Glutaric Aciduria Type I, Isovaleric Acidaemia, Long-chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency]

[Clinical effectiveness of newborn screening for inborn errors of metabolism using mass spectrometry: Maple Syrup Urine Disease, Homocystinuria, Glutaric Aciduria Type I, Isovaleric Acidaemia, Long-chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency] Efectividad clínica del cribado neonatal de errores congénitos del metabolismo mediante espectrometría de masas en tándem. Parte I: enfermedad de la orina con olor a jarabe de arce, homocistinuria, acidemia glutárica tipo I, acidemia isovalérica y (...) deficiencia de 3-hidroxi-acil-CoA deshidrogenasa de cadena larga [Clinical effectiveness of newborn screening for inborn errors of metabolism using mass spectrometry: Maple Syrup Urine Disease, Homocystinuria, Glutaric Aciduria Type I, Isovaleric Acidaemia, Long-chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency] Efectividad clínica del cribado neonatal de errores congénitos del metabolismo mediante espectrometría de masas en tándem. Parte I: enfermedad de la orina con olor a jarabe de arce, homocistinuria

2013 Health Technology Assessment (HTA) Database.

37. Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells. (Full text)

Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells. Inborn errors of hepatic metabolism are because of deficiencies commonly within a single enzyme as a consequence of heritable mutations in the genome. Individually such diseases are rare, but collectively they are common. Advances in genome-wide association studies and DNA sequencing have helped researchers identify the underlying genetic basis of such diseases. Unfortunately, cellular and animal models (...) that accurately recapitulate these inborn errors of hepatic metabolism in the laboratory have been lacking. Recently, investigators have exploited molecular techniques to generate induced pluripotent stem cells from patients' somatic cells. Induced pluripotent stem cells can differentiate into a wide variety of cell types, including hepatocytes, thereby offering an innovative approach to unravel the mechanisms underlying inborn errors of hepatic metabolism. Moreover, such cell models could potentially provide

2017 Thrombosis and Vascular Biology PubMed abstract

38. Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. (Full text)

Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems (...) abnormalities, storage diseases, and inborn errors of metabolism are described.© 2017 American Heart Association, Inc.

2017 Circulation Research PubMed abstract

39. Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals (Full text)

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals (...) caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6%) patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4%) and 25 (5%) patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset

2017 Molecular genetics and metabolism reports PubMed abstract

40. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism (Full text)

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism This study is part of the "European network and registry for intoxication type metabolic diseases" (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD) and organic acidurias (OA) have a major impact on patients' lives. Patients have to adhere to strict diet and medication (...) and may suffer from metabolic crises and neurocognitive impairment. Disease-specific health-related quality of life (HrQoL) assessment questionnaires are the method of choice to estimate the subjective burden of a disease. To date, no such instrument is available for IT-IEM.Disease-specific patient- and parent-reported HrQoL questions were constructed in German based on focus group interviews with patients and parents. Questionnaires for patients from 8 to 18 years were piloted with 14 participants (n

2017 JIMD reports PubMed abstract

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