How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

4,179 results for

Inborn Errors of Metabolism

by
...
Alerts

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

161. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. (Full text)

Epinephrine IM Animals Blood Glucose analysis Brain Diseases etiology Carbohydrate Metabolism, Inborn Errors complications Carboxy-Lyases metabolism Epinephrine pharmacology Glucagon metabolism Gluconeogenesis Glucose Tolerance Test Humans Infant Lactates blood Liver enzymology Male Phosphotransferases metabolism Pyruvates blood Rats Thioctic Acid therapeutic use 1968 8 1 1968 8 1 0 1 1968 8 1 0 0 ppublish 4873809 PMC2019984 Arch Dis Child. 1965 Oct;40(213):492-501 5829993 Helv Paediatr Acta. 1965 Jul;20 (...) Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. 4873809 1968 09 05 2018 11 13 1468-2044 43 230 1968 Aug Archives of disease in childhood Arch. Dis. Child. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. 423-6 Hommes F A FA Polman H A HA Reerink J D JD eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Blood Glucose 0 Lactates 0 Pyruvates 73Y7P0K73Y Thioctic Acid 9007-92-5 Glucagon EC 2.7.- Phosphotransferases EC 4.1.1.- Carboxy-Lyases YKH834O4BH

1968 Archives of Disease in Childhood PubMed abstract

162. Association Between Newborn Metabolic Profiles and Pediatric Kidney Disease (Full text)

Association Between Newborn Metabolic Profiles and Pediatric Kidney Disease Metabolomics offers considerable promise in early disease detection. We set out to test the hypothesis that routine newborn metabolic profiles at birth, obtained through screening for inborn errors of metabolism, would be associated with kidney disease and add incremental information to known clinical risk factors.We conducted a population-level cohort study in Ontario, Canada, using metabolic profiles from 1,288,905

2018 Kidney international reports PubMed abstract

163. Assessing Cardiac Metabolism (Full text)

Assessing Cardiac Metabolism Assessing Cardiac Metabolism | Circulation Research Search Hello Guest! Login to your account Email Password Keep me logged in Search March 2019 March 2019 February 2019 February 2019 January 2019 January 2019 This site uses cookies. By continuing to browse this site you are agreeing to our use of cookies. Free Access article Share on Jump to Free Access article Assessing Cardiac Metabolism A Scientific Statement From the American Heart Association , MD, DPhil, FAHA (...) reactions, the heart converts chemical energy to mechanical energy. Energy transfer is achieved through coordinated activation of enzymes, ion channels, and contractile elements, as well as structural and membrane proteins. The heart’s needs for energy are difficult to overestimate. At a time when the cardiovascular research community is discovering a plethora of new molecular methods to assess cardiac metabolism, the methods remain scattered in the literature. The present statement on “Assessing

2016 American Heart Association PubMed abstract

164. Inherited disorders of cobalamin metabolism disrupt nucleocytoplasmic transport of mRNA through impaired methylation/phosphorylation of ELAVL1/HuR (Full text)

related to the subcellular mislocalization of several RNA binding proteins, including the ELAVL1/HuR protein implicated in neuronal stress, in this cell model and in patient fibroblasts with inborn errors of cobalamin metabolism and Cd320 knockout mice. The decreased interaction of ELAVL1/HuR with the CRM1/exportin protein of the nuclear pore complex and its subsequent mislocalization resulted from hypomethylation at R-217 produced by decreased S-adenosylmethionine and protein methyl transferase CARM1 (...) with the effects of inborn errors of Cbl metabolisms on brain development, neuroplasticity and myelin formation.

2018 Nucleic acids research PubMed abstract

165. Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. (Full text)

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism due to reduced function of glucose transporter type 1. Clinical presentation (...) on mitochondrial physiology. Moreover, low levels of free carnitine were present suggesting its consumption in GLUT1-DS on ketogenic diet. 3-hydroxybutyrate, 3-hydroxybutyrylcarnitine, 3-methyladipate, and N-acetylglycine were identified as potential biomarkers of GLUT1-DS on ketogenic diet. This is the first study to identify CSF, plasma, and urine metabolites associated with GLUT1-DS, as well as biochemical changes impacted by a ketogenic diet. Potential biomarkers and metabolic insights deserve further

2017 PLoS ONE PubMed abstract

166. Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist. (Abstract)

Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist. Inherited metabolic disorders, or inborn errors of metabolism, can result in significant morbidity and mortality. Advances in genetic testing, including newborn screening and prenatal carrier screening, continue to increase awareness and highlight the importance of these conditions. Increasingly, women born with these conditions are surviving to adulthood, and many become pregnant. The practicing obstetrician (...) -gynecologist should be familiar with the most common and the most relevant inherited metabolic disorders affecting women.The objective of this review is to define inherited metabolic disorders that have relevance to the obstetrician-gynecologist. We discuss the diagnosis, presentation, epidemiology, and special concerns to the obstetrician-gynecologist managing patients affected by these conditions.A MEDLINE search of "inherited metabolic disorders" and "inborn errors of metabolism" and specific conditions

2018 Obstetrical & Gynecological Survey

167. NGS for Metabolic Disease Diagnosis (Full text)

NGS for Metabolic Disease Diagnosis 30479609 2018 12 07 1650-3414 29 3 2018 Nov EJIFCC EJIFCC NGS for Metabolic Disease Diagnosis. 227-229 Yubero Dèlia D Department of Genetics and Molecular Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. Artuch Rafael R Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain. eng Journal Article 2018 11 07 Italy EJIFCC 101092742 1650-3414 inborn errors (...) of metabolism next generation sequencing 2018 11 28 6 0 2018 11 28 6 0 2018 11 28 6 1 epublish 30479609 PMC6247130 PLoS One. 2016 May 31;11(5):e0156359 27243974 BMC Genet. 2017 Feb 14;18(1):14 28193154 Neurotherapeutics. 2013 Apr;10(2):262-72 23269496 Arch Dis Child. 2017 Nov;102(11):1019-1029 28468868 PLoS One. 2017 Feb 2;12(2):e0170843 28152038 BMC Med Genet. 2013 Nov 11;14:118 24215330 Trends Biochem Sci. 2017 Oct;42(10):824-843 28927698 Clin Genet. 2016 Mar;89(3):275-84 26283276

2018 EJIFCC PubMed abstract

168. The Impact of Phosphate Metabolism on Healthy Aging

Metabolism Disorders Vitamin D Deficiency Avitaminosis Deficiency Diseases Malnutrition Nutrition Disorders Phosphorus Metabolism Disorders Hypophosphatemia, Familial Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Metal Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Urological Manifestations Signs and Symptoms (...) The Impact of Phosphate Metabolism on Healthy Aging The Impact of Phosphate Metabolism on Healthy Aging - 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. The Impact of Phosphate Metabolism on Healthy Aging

2018 Clinical Trials

169. Management of pregnancy in women with genetic disorders: part 2: inborn errors of metabolism, cystic fibrosis, neurofibromatosis type 1, and turner syndrome in pregnancy. (Full text)

Management of pregnancy in women with genetic disorders: part 2: inborn errors of metabolism, cystic fibrosis, neurofibromatosis type 1, and turner syndrome in pregnancy. With early diagnosis and increasingly effective medical care, more women with genetic syndromes are undergoing pregnancy, often presenting challenges for providers. Each year more women with genetic disease reach childbearing age. Advances in assisted reproductive technology have enabled pregnancy in a cohort of woman who (...) disorder observed in the mother as well as risks related to her chronic disease status. In this article, the second of a 2-part series, we will review the key issues for managing women with various inborn errors of metabolism during pregnancy. Additionally, we will discuss the care of women with Turner syndrome, neurofibromatosis type 1, and cystic fibrosis.Obstetricians & Gynecologists and Family Physicians.After the completing the CME activity, physicians should be better able to classify

2011 Obstetrical & Gynecological Survey PubMed abstract

170. Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism. (Abstract)

Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism. Children with inherited metabolic disorders are a potential high-risk group for vaccine-preventable diseases, yet information regarding immunization rates and vaccine safety within this population is limited.Using Northern California Kaiser Permanente's electronic medical record, we identified children with inborn errors of metabolism from 1990 to 2007. We assessed immunization rates among infants (...) with inborn errors of metabolism born at Northern California Kaiser Permanente matched to healthy infants (1 to 20), comparing both vaccines received by 2 years of age and age at vaccination. We assessed postvaccination adverse events among children up to 18 years old with inborn errors of metabolism, separately comparing emergency-department visits and hospitalizations during postvaccine days 0 to 30 (primary) and days 0 to 14 (secondary).Comparing infants with inborn errors of metabolism (n = 77) versus

2011 Pediatrics

171. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. (Full text)

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Mutations in genes that play fundamental roles in metabolic pathways have been found to also play a role in tumor development and susceptibility to cancer. At the same time, significant progress has been made in the treatment of patients with inborn errors of metabolism (IEM),(1) resulting in increased longevity and the unmasking of cancer predisposition, frequently hepatocellular carcinoma (...) , in these conditions. These patients offer a potential opportunity to deepen our understanding of how intermediary metabolism impacts tumorigenesis. We provide an overview from the perspective of cancers in patients affected with IEM and discuss how dysregulation of these specific metabolic pathways might contribute to the mechanisms of cancer development and treatment.Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

2011 American Journal of Human Genetics PubMed abstract

172. Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate

Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate - 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 (...) . Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate 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. Read our for details. ClinicalTrials.gov Identifier: NCT01341379 Recruitment Status : Withdrawn (Lack of funding) First Posted : April 25, 2011 Last Update Posted : May 29, 2014 Sponsor: Children's Hospital of Philadelphia Collaborator

2011 Clinical Trials

173. Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. (Abstract)

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. An infant was investigated because of megaloblastic anaemia, atypical hemolytic uraemic syndrome, severe combined immune deficiency, elevated blood levels of homocysteine and methylmalonic acid, and a selective decreased synthesis of methylcobalamin in cultured fibroblasts.Exome sequencing was performed on patient genomic DNA.Two mutations were identified (...) previously been shown to affect enzyme activity. Both parents carry a single mutation and an unaffected sibling carries neither mutation. The combination of two mutations in the MTHFRD1 gene, predicted to have severe consequences, in the patient and their absence in the unaffected sibling, supports causality.This patient represents the first case of an inborn error of folate metabolism affecting the trifunctional MTHFD1 protein. This report reinforces the power of exome capture and sequencing

2011 Journal of Medical Genetics

174. Diagnosis and treatment of metabolic errors. (Full text)

Diagnosis and treatment of metabolic errors. 5580749 1971 07 27 2018 11 13 0008-4409 104 12 1971 Jun 19 Canadian Medical Association journal Can Med Assoc J Diagnosis and treatment of metabolic errors. 1064-5 eng Journal Article Canada Can Med Assoc J 0414110 0008-4409 AIM IM Diet Therapy Female Humans Infant, Newborn Infant, Newborn, Diseases diagnosis therapy Intellectual Disability etiology prevention & control Metabolism, Inborn Errors diagnosis etiology therapy Phenylketonurias diagnosis

1971 Canadian Medical Association Journal PubMed abstract

175. Hair Amino Acids: Normal Values and Results in Metabolic Errors (Full text)

Homocystinuria Humans Infant Infant, Newborn Male Metabolism, Inborn Errors metabolism Middle Aged Phenylalanine analysis Phenylketonurias metabolism Proteins analysis 1970 10 1 1970 10 1 0 1 1970 10 1 0 0 ppublish 5477681 PMC1647550 Arch Dis Child. 1968 Apr;43(228):211-6 5645693 Nature. 1968 May 18;218(5142):679 5690339 Acta Paediatr Scand. 1969 May;58(3):287-9 5783416 J Pediatr. 1969 Sep;75(3):463-78 5804194 Lancet. 1969 Oct 4;2(7623):748 4186193 Arch Dis Child. 1969 Dec;44(238):681-7 5356973 Arch Belg (...) Hair Amino Acids: Normal Values and Results in Metabolic Errors 5477681 1970 12 28 2018 11 13 1468-2044 45 243 1970 Oct Archives of disease in childhood Arch. Dis. Child. Hair amino acids: normal values and results in metabolic errors. 678-81 Van Sande M M eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Amino Acids 0 Glutamates 0 Proteins 47E5O17Y3R Phenylalanine IM Adolescent Adult Amino Acids analysis Child Child, Preschool Female Glutamates analysis Hair analysis

1970 Archives of Disease in Childhood PubMed abstract

176. The metabolic error in primary hyperoxaluria. (Full text)

The metabolic error in primary hyperoxaluria. 5829992 1965 11 30 2018 11 13 0003-9888 40 213 1965 Oct Archives of disease in childhood Arch. Dis. Child. The metabolic error in primary hyperoxaluria. 485-91 Hockaday T D TD Clayton J E JE Smith L H LH Jr eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Carbon Isotopes 0 Glycolates 0 Glyoxylates 0 Hippurates 0 Oxalates RMB44WO89X Hydroxyproline TE7660XO1C Glycine IM Adolescent Amino Acid Metabolism, Inborn Errors complications Carbon (...) Isotopes Family Glycine metabolism Glycolates metabolism Glyoxylates metabolism Hippurates metabolism Humans Hydroxyproline metabolism Kidney Calculi etiology Nephrocalcinosis etiology Oxalates metabolism Urine 1965 10 1 2001 3 28 10 1 1965 10 1 0 0 ppublish 5829992 PMC2019460 Ann Intern Med. 1961 Jul;55:70-80 13774084 Metabolism. 1960 Jan;9:52-8 13815869 J Biol Chem. 1954 Feb;206(2):587-96 13143017 Sem Hop. 1959 Jun 18;35(28/6):2023-32/SP 13675786 Pediatrics. 1960 Jun;25:1008-17 13854788 Proc Natl

1965 Archives of Disease in Childhood PubMed abstract

177. Familial chronic acidosis due to an error in lactate and pyruvate metabolism. (Full text)

Infant Intellectual Disability complications Ketoglutaric Acids urine Lactates blood Male Metabolism, Inborn Errors Muscles metabolism Muscular Diseases complications Neurologic Manifestations Obesity complications Ontario Pyruvates blood Seizures complications 1967 9 23 1967 9 23 0 1 1967 9 23 0 0 ppublish 6050895 PMC1923319 J Pediatr. 1962 Aug;61:165-80 13905026 J Pediatr. 1965 Jun;66:1004-16 14288452 Pediatrics. 1966 Jan;37(1):120-31 5323002 Arch Dis Child. 1965 Oct;40(213):492-501 5829993 Clin (...) Familial chronic acidosis due to an error in lactate and pyruvate metabolism. 6050895 1967 12 14 2018 11 13 0008-4409 97 13 1967 Sep 23 Canadian Medical Association journal Can Med Assoc J Familial chronic acidosis due to an error in lactate and pyruvate metabolism. 773-9 Haworth J C JC Ford J D JD Younoszai M K MK eng Journal Article Canada Can Med Assoc J 0414110 0008-4409 0 Ketoglutaric Acids 0 Lactates 0 Pyruvates AIM IM Acidosis complications genetics Female Humans Indians, North American

1967 Canadian Medical Association Journal PubMed abstract

178. Clinical Practice Guidelines for Healthy Eating for the Prevention and Treatment of Metabolic and Endocrine Diseases in Adults: Cosponsored by American Association of Clinical Endocrinologists/American College of Endocrinology and The Obesity Society

Clinical Practice Guidelines for Healthy Eating for the Prevention and Treatment of Metabolic and Endocrine Diseases in Adults: Cosponsored by American Association of Clinical Endocrinologists/American College of Endocrinology and The Obesity Society ENDOCRINE PRACTICE Vol 19 (Suppl 3) September/October 2013 1 AACE/ACE Guidelines CLINICAL PRACTICE GUIDELINES FOR HEALTHY EATING FOR THE PREVENTION AND TREATMENT OF METABOLIC AND ENDOCRINE DISEASES IN ADULTS: COSPONSORED BY THE AMERICAN ASSOCIATION (...) = hemoglobin A1c; AACE = American Association of Clinical Endocrinologists; ADA = American Diabetes Association; AHA = American Heart Association; AI = adequate intake; ALA = alpha-linoleic acid; BEE = basal energy expenditure; BEL = “best evidence” rating level; BMI = body mass index; BMR = basal metabolic rate; BP = blood pres- sure; CCM = Chronic Care Model; CCS = consecutive case studies; CHD = coronary heart disease; CI = con- fidence interval; CKD = chronic kidney disease; CPG = clinical practice

2013 American Association of Clinical Endocrinologists

179. Inborn error of metabolism

Inborn error of metabolism Inborn errors of metabolism - Wikipedia Inborn errors of metabolism From Wikipedia, the free encyclopedia (Redirected from ) Inborn errors of metabolism Inborn errors of metabolism form a large class of involving disorders of . The majority are due to defects of single that code for that facilitate conversion of various substances ( ) into others ( ). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal (...) function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders . The term inborn errors of metabolism was coined by a British physician, (1857–1936), in 1908. He is known for work that prefigured the , based on his studies on the nature and inheritance of . His seminal text, Inborn Errors of Metabolism was published in 1923. Contents Classification [ ] Traditionally

2012 Wikipedia

180. Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis (Full text)

is in the decreased-deficient fumaric acid production in the course of UC in UCDs that causes several sequentially intertwined metabolic disturbances with final result of liver iron overload. The presented hypothesis could be easily tested by examining the patients suffering from UCDs, for liver iron overload. This could be easily performed in countries with a high population and comprehensive national register for inborn errors of metabolism.Providing the hypothesis is correct, neonatal liver damage in patients (...) Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis The underlying pathophysiology of liver dysfunction in urea cycle disorders (UCDs) is still largely elusive. There is some evidence that the accumulation of urea cycle (UC) intermediates are toxic for hepatocyte mitochondria. It is possible that liver injury is directly caused by the toxicity of ammonia. The rarity of UCDs, the lack of checking of iron level in these patients, superficial

2017 World Journal of Gastroenterology PubMed abstract

To help you find the content you need quickly, you can filter your results via the categories on the right-hand side >>>>