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Inborn Errors of Metabolism

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

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

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2017 Molecular genetics and metabolism reports

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

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

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2017 JIMD reports

43. Inborn Errors of Fructose Metabolism. What Can We Learn from Them? (PubMed)

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited. If intolerance to carbohydrates is a frequent finding in children, inborn errors of carbohydrate metabolism are rare conditions. Three inborn errors are known in the pathway of fructose metabolism; (1) essential or benign (...) fructosuria due to fructokinase deficiency; (2) hereditary fructose intolerance; and (3) fructose-1,6-bisphosphatase deficiency. In this review the focus is set on the description of the clinical symptoms and biochemical anomalies in the three inborn errors of metabolism. The potential toxic effects of fructose in healthy humans also are discussed. Studies conducted in patients with inborn errors of fructose metabolism helped to understand fructose metabolism and its potential toxicity in healthy human

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2017 Nutrients

44. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities (PubMed)

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors, have been associated with cblX. HCFC1 regulates cobalamin metabolism via the regulation of MMACHC expression through its interaction with THAP11 (...) of the ceratobranchial cartilages. These data are consistent with our previous work that demonstrated a role for HCFC1 in vertebrate craniofacial development. High throughput RNA-sequencing analysis reveals several overlapping gene targets of HCFC1 and THAP11. Thus, both HCFC1 and THAP11 play important roles in the regulation of cobalamin metabolism as well as other pathways involved in early vertebrate development.© The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please

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2017 Human molecular genetics

45. An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC) (PubMed)

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC) The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently (...) genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity. Genetic counseling was provided to families 95.8% of the time and in 68.6% of cases by a genetic counselor. Genetic testing was performed

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2017 Journal of Genetic Counseling

46. Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism (PubMed)

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of highly specialized experts to professionals involved in early diagnoses. We introduce IEMbase, an online expert-curated IEM knowledge base combined with a prototype (...) diagnosis support (mini-expert) system.MethodsDisease-characterizing profiles of specific biochemical markers and clinical symptoms were extracted from an expert-compiled IEM database. A mini-expert system algorithm was developed using cosine similarity and semantic similarity. The system was evaluated using 190 retrospective cases with established diagnoses, collected from 15 different metabolic centers.ResultsIEMbase provides 530 well-defined IEM profiles and matches a user-provided phenotypic profile

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2017 Genetics in Medicine

47. INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN’S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE (PubMed)

INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN’S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE To assess the initial clinical presentation of confirmed cases of inborn errors of metabolism (IEM) at a reference facility for pediatric care.Cross-sectional, observational and descriptive study with data collection of outpatients, from January 2009 to December 2013. Inclusion criterion: referral to IEM investigation. Exclusion criterion: prior diagnosis (...) with organic acidemias, two with urea cycle disorders and four with lysosomal storage diseases). Cognitive impairment and seizures were the initial signs and symptoms, followed by growth retardation, neuropsychomotor developmental delay, seizures and hepatomegaly. The main laboratory abnormalities in the diagnosis were hyperammonemia and metabolic acidosis.The diagnosis of IEM still creates challenges to the pediatric practice. In this study, we identified the following factors: difficulty to access

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2017 Revista Paulista de Pediatria

48. Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism (PubMed)

Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We measured plasma FGF21 by ELISA in patients with and without IEM. FGF21 levels were higher in patients with IEM compared to without IEM (370 pg/dL vs. 0-65 pg/dL). Further study

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2017 Molecular genetics and metabolism reports

49. Uric acid, an important screening tool to detect inborn errors of metabolism: a case series (PubMed)

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. CASE 1: A one-and-half-year-old boy was investigated (...) phosphoribosyltransferase enzyme level confirmed the diagnosis of Lesch-Nyhan syndrome. CASE 4: A 9-year-old boy was investigated for lower abdominal pain, gross haematuria and right renal calculus. Low uric acid level in serum and increased fractional excretion of uric acid pointed towards hereditary renal hypouricaemia which was confirmed by genetic studies.Abnormal uric acid level in blood and urine is a valuable tool in screening for clinical conditions related to derangement of the nucleic acid metabolic pathway.

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2017 BMC research notes

50. Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase (PubMed)

Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase 29290639 2018 10 22 2019 01 14 1573-2665 40 6 2017 11 Journal of inherited metabolic disease J. Inherit. Metab. Dis. Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase. 755-756 10.1007/s10545-017-0090-y Houten Sander M SM Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine (...) at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA. eng R01 DK113172 DK NIDDK NIH HHS United States News 2017 09 21 United States J Inherit Metab Dis 7910918 0141-8955 0 Mitochondrial Proteins EC 2.7.1.- AGK protein, human EC 2.7.1.- Phosphotransferases (Alcohol Group Acceptor) Cataract and cardiomyopathy IM Cardiomyopathies enzymology genetics Cataract enzymology genetics Humans Metabolism, Inborn Errors enzymology Mitochondria enzymology genetics Mitochondrial Proteins deficiency

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2017 Journal of Inherited Metabolic Disease

51. Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches (PubMed)

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term "metabolic epilepsy" can be used to include these conditions. These epilepsies can present across the life span, and share

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2017 International journal of molecular sciences

52. Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era (PubMed)

Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved explains the difficulties in establishing their diagnosis. However, early diagnosis is usually mandatory for successful treatment. Given the considerable clinical overlap between some inborn errors

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2016 International journal of molecular sciences

53. [A priori evaluation of the expansion of newborn screening to one or more inborn error(s) of metabolism using the technology of tandem mass spectrometry in the general population in France. Part 1: medium chain CoA dehydrogenase deficiency (MCADD)]

[A priori evaluation of the expansion of newborn screening to one or more inborn error(s) of metabolism using the technology of tandem mass spectrometry in the general population in France. Part 1: medium chain CoA dehydrogenase deficiency (MCADD)] Evaluation de l'extension du depistage neonatal a une ou plusieurs erreurs innees du metabolisme par spectrometrie de masse en tandem. 1er volet: deficit en MCAD [A priori evaluation of the expansion of newborn screening to one or more inborn error(s (...) ) of metabolism using the technology of tandem mass spectrometry in the general population in France. Part 1: medium chain CoA dehydrogenase deficiency (MCADD)] Evaluation de l'extension du depistage neonatal a une ou plusieurs erreurs innees du metabolisme par spectrometrie de masse en tandem. 1er volet: deficit en MCAD [A priori evaluation of the expansion of newborn screening to one or more inborn error(s) of metabolism using the technology of tandem mass spectrometry in the general population in France

2011 Health Technology Assessment (HTA) Database.

54. Cholic acid (Orphacol) for inborn errors of primary bile acid synthesis ? first line

(Orphacol) for inborn errors of primary bile acid synthesis – first line. Birmingham: NIHR Horizon Scanning Centre (NIHR HSC). Horizon Scanning Review. 2014 Final publication URL Indexing Status Subject indexing assigned by CRD MeSH Bile; Bile Acids and Saltss; Cholic Acid; Metabolism, Inborn Errors Language Published English Country of organisation England English summary An English language summary is available. Address for correspondence The NIHR Horizon Scanning Centre, Department of Public Health (...) Cholic acid (Orphacol) for inborn errors of primary bile acid synthesis ? first line Cholic acid (Orphacol) for inborn errors of primary bile acid synthesis – first line Cholic acid (Orphacol) for inborn errors of primary bile acid synthesis – first line NIHR HSC Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation NIHR HSC. Cholic acid

2014 Health Technology Assessment (HTA) Database.

55. 221 Newborn-Screened Neonates with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Findings from the Inborn Errors of Metabolism Collaborative (PubMed)

221 Newborn-Screened Neonates with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency: Findings from the Inborn Errors of Metabolism Collaborative There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening.Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified (...) as affected with MCADD in the Inborn Errors of Metabolism - Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed.The average age at notification of first newborn screen results to primary care or metabolic providers was 7.45days. The average octanoylcarnitine (C8) value on first newborn screen was 11.2μmol/L (median 8.6, range 0.36-43.91). A higher C8 level correlated with an earlier first subspecialty visit. Subjects with low birth

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2016 Molecular genetics and metabolism

56. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates (PubMed)

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates.From January 2012 to December 2014, 85 patients (46 % females) were seen in the metabolic center at Tawam Hospital (Abu Dhabi) and WES testing was requested because definitive diagnoses were not reached by conventional (...)  > A (p.V339M), but urine organic acids was normal. WES confirmed inborn errors of metabolism (five mitochondrial diseases, three lysosomal storage diseases, and six other disorders) in 14 patients and genetic disorders (14 neurological diseases and three non-neurological diseases) in 17 patients. Variants of unknown significance were identified in 48 patients; 12 had "confirmed pathologic variants"and 12 had "likely pathologic variants", based on consistent phenotypes, biochemical/ segregation studies

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2016 Orphanet journal of rare diseases

57. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism (PubMed)

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism We wished to determine the efficacy of using urine as an analyte to screen for a broad range of metabolic products associated with multiple different types of inborn errors of metabolism (IEMs), using an automated mass spectrometry-based assay. Urine was compared with plasma samples from a similar cohort analyzed using the same assay. Specimens were analyzed using two different commonly utilized urine

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2016 Genetic testing and molecular biomarkers

58. Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations (PubMed)

Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations The rise of technologies that simultaneously measure thousands of data points represents the heart of systems biology. These technologies have had a huge impact on the discovery of next-generation diagnostics, biomarkers, and drugs in the precision medicine era. Systems biology aims to achieve systemic exploration of complex interactions in biological systems. Driven by high (...) errors of metabolism (IEM) are presented by introducing a new paradigm shift in addressing IEM investigations in the post-genomic era.

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2016 International journal of molecular sciences

59. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia (PubMed)

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type

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2016 Orphanet journal of rare diseases

60. Sirtuin activation as a therapeutic approach against inborn errors of metabolism (PubMed)

Sirtuin activation as a therapeutic approach against inborn errors of metabolism Protein acylation has emerged as a large family of post translational modifications in which an acyl group can alter the function of a wide variety of proteins, especially in response to metabolic stress. The acylation state is regulated through reversible acylation/deacylation. Acylation occurs enzymatically or non-enzymatically, and responds to acyl-CoA levels. Deacylation on the other hand is controlled through (...) the NAD(+)-dependent sirtuin proteins. In several inborn errors of metabolism (IEMs), accumulation of acyl-CoAs, due to defects in amino acid and fatty acid metabolic pathways, can lead to hyperacylation of proteins. This can have a direct effect on protein function and might play a role in pathophysiology. In this review we describe several mouse and cell models for IEM that display high levels of lysine acylation. Furthermore, we discuss how sirtuins serve as a promising therapeutic target

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2016 Journal of Inherited Metabolic Disease

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