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Inborn Errors of Metabolism

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

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

2017 Molecular genetics and metabolism reports PubMed abstract

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

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

2017 Journal of Genetic Counseling PubMed abstract

43. Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism (Full text)

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

2017 Molecular genetics and metabolism reports PubMed abstract

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

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.

2017 BMC research notes PubMed abstract

45. Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase (Full text)

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

2017 Journal of Inherited Metabolic Disease PubMed abstract

46. Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches (Full text)

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

2017 International journal of molecular sciences PubMed abstract

47. Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism (Full text)

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

2017 Genetics in Medicine PubMed abstract

48. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities (Full text)

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

2017 Human molecular genetics PubMed abstract

49. Inborn Errors of Fructose Metabolism. What Can We Learn from Them? (Full text)

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

2017 Nutrients PubMed abstract

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

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

2017 Revista Paulista de Pediatria PubMed abstract

51. Genome editing for inborn errors of metabolism: advancing towards the clinic. (Full text)

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

2017 BMC Medicine PubMed abstract

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

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

53. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. (Full text)

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

2017 Archives of Disease in Childhood PubMed abstract

54. Inborn Error of Small Molecule Metabolism

Inborn Error of Small Molecule Metabolism Inborn Error of Small Molecule Metabolism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 (...) Inborn Error of Small Molecule Metabolism Inborn Error of Small Molecule Metabolism Aka: Inborn Error of Small Molecule Metabolism II. Types Organic acid disorders Propionic acidemia Isovaleric acidemia Glutaric Acidemia Type I Beta-Ketothiolase deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency Carbohydrate metabolism defects See Amino acid metabolism and Urea Cycle defects Maple syrup urine disease Tyrosinemia Tryptophanuria Beta-alaninemia

2018 FP Notebook

55. Inborn Errors of Metabolism

Inborn Errors of Metabolism Inborn Errors of Metabolism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Inborn Errors of Metabolism (...) Inborn Errors of Metabolism Aka: Inborn Errors of Metabolism II. Labs: Metabolic disorders tested on Newborn Screen See III. Pathophysiology All Metabolism ( , and Protein) Path: Acetyl-CoA to Krebs Cycle Disrupted pathway results in build up of ketones Path: Glycogen (and fructose, galactose) to to pyruvate to actetyl-CoA (and Krebs Cycle) Disrupted pathway results in build-up of and ketones Brain may use ketones for fuel by 12-24 hours and in chronic elevations Metabolism Path: Fat to free s

2018 FP Notebook

56. 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.

57. The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex (Full text)

activation, proliferation, survival, and metabolism. Inborn errors in each of the CBM components have now been linked to a diverse group of human primary immunodeficiency diseases termed "CBM-opathies." Clinical manifestations range from severe combined immunodeficiency to selective B cell lymphocytosis, atopic disease, and specific humoral defects. This surprisingly broad spectrum of phenotypes underscores the importance of "tuning" CBM signaling to preserve immune homeostasis. Here, we review (...) The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex The caspase recruitment domain family member 11 (CARD11 or CARMA1)-B cell CLL/lymphoma 10 (BCL10)-MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the NF-κB, JNK, and mTORC1 signaling axes. This positions the CBM complex as a critical regulator of lymphocyte

2018 Frontiers in immunology PubMed abstract

58. Orphacol (cholic acid) - inborn errors in primary bile acid synthesis

for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy. Gastroenterology 2009; 137: 1310-1320. 5 Setchell KD et al. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest, 1998. 102(9): p. 1690-703. 6 Daugherty CC et al. Resolution of liver biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism (delta 4 3 (...) oxosteroid 5 beta-reductase deficiency). Hepatology 1993; 18: 1096-101. 7 Balistreri WF. Fetal and neonatal bile acid synthesis and metabolism--clinical implications. J Inherit Metab Dis 1991; 14: 459-77. 8 Balistreri W.F. Inborn errors of bile acid biosynthesis: Clinical and therapeutic aspects. In Bile Acids in Gastroenterology: Basic and Clinical Advances, A.F. Hofmann, G. Paumgartner, and A. Stiehl, Editors. 1995, Kluwer Academic Publishers: London. 333-353. 9 Balistreri WF. Inborn errors of bile

2014 Haute Autorite de sante

59. [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.

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

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

2016 International journal of molecular sciences PubMed abstract

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