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Inborn Errors of Metabolism

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21. Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center (PubMed)

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals, as well as the research at basic, translational and clinical levels. Nevertheless, few reports have described the experience

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2018 Orphanet journal of rare diseases

22. Impact of pregnancy on inborn errors of metabolism (PubMed)

Impact of pregnancy on inborn errors of metabolism Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence (...) and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood. Pregnancy, once contraindicated for many, may represent a challenging but successful outcome. Successful pregnancies are now reported in a wide range of IEM. Significant challenges remain, given the biological stresses of pregnancy, parturition and the puerperium. Known diagnoses allow preventive and pre-emptive management. Unrecognized metabolic disorders

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2018 Reviews in endocrine & metabolic disorders

23. Bone health in patients with inborn errors of metabolism (PubMed)

Bone health in patients with inborn errors of metabolism Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and hypophosphatasia. Conditions involving bone marrow or affecting skeletal growth and development are mainly the lysosomal storage disorders, in particular the mucopolysaccharidoses (...) of these primary or secondary bone problems amongst physicians treating patients with inborn errors of metabolism is of importance for optimization bone health and recognition of skeletal complications.

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2018 Reviews in endocrine & metabolic disorders

24. Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism (PubMed)

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

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2018 Annals of Translational Medicine

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

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

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

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

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

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

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2018 Journal of Inherited Metabolic Disease

28. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence (PubMed)

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

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2018 Journal of global health

29. Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism. (PubMed)

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

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2018 Movement Disorders

30. Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia due to Inborn Errors of Metabolism. (PubMed)

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia due to Inborn Errors of Metabolism. To evaluate the role of next generation sequencing in genetic diagnosis of pediatric patients with persistent hypoglycemia.Sixty-four patients investigated through an extensive workup were divided in 3 diagnostic classes based on the likelihood of a genetic diagnosis: (1) single candidate gene (9/64); (2) multiple candidate genes (43/64); and (3) no candidate gene (...) % of patients belonging to the no candidate gene class. Next generation sequencing technique is cost-effective compared with Sanger sequencing of multiple genes and represents a powerful tool for the diagnosis of inborn errors of metabolism presenting with persistent hypoglycemia.Copyright © 2018 Elsevier Inc. All rights reserved.

2018 Journal of Pediatrics

31. Movement Disorders in Treatable Inborn Errors of Metabolism. (PubMed)

Movement Disorders in Treatable Inborn Errors of Metabolism. There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined. Although movement (...) disorders are usually not the only and often not the presenting symptom, their recognition can facilitate a diagnosis. Movement disorders contribute substantially to the morbidity in inborn errors of metabolism and can have a significant impact on quality of life. Common metabolic movement disorders include the monoamine neurotransmitter disorders, disorders of amino and organic acid metabolism, metal storage disorders, lysosomal storage disorders, congenital disorders of autophagy, disorders

2018 Movement Disorders

32. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. (PubMed)

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Organic acidemias and urea cycle disorders are ultra-rare inborn errors of metabolism characterized by episodic acute decompensation, often associated with hyperammonemia, resulting in brain edema and encephalopathy. Retrospective reports and translational studies suggest that N-carbamylglutamate (NCG) may

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2018 Translational Science of Rare Diseases Controlled trial quality: predicted high

33. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review (PubMed)

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

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2018 Sudanese journal of paediatrics

34. [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.

35. Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. (PubMed)

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.

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2017 Circulation Research

36. Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells. (PubMed)

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

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2017 Thrombosis and Vascular Biology

37. The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism. (PubMed)

The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism. 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.Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7 (...) 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.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

2017 Journal of Pediatrics

38. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. (PubMed)

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches.We designed and validated a next-generation sequencing (NGS) panel of 226 IEM genes, created six overlapping phenotype-based subpanels and tested 102 individuals, who presented clinically with suspected childhood-onset IEMs.In 51/102

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2017 Archives of Disease in Childhood

39. Genome editing for inborn errors of metabolism: advancing towards the clinic. (PubMed)

Genome editing for inborn errors of metabolism: advancing towards the clinic. Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease

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2017 BMC Medicine

40. Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism (PubMed)

Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism 29124013 2018 11 13 2214-4269 14 2018 Mar Molecular genetics and metabolism reports Mol Genet Metab Rep Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism. 1-2 10.1016/j.ymgmr.2017.10.005 Finsterer Josef J Krankenanstalt Rudolfstiftung, Vienna, Austria. Zarrouk-Mahjoub

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2017 Molecular genetics and metabolism reports

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