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Inborn Errors of Metabolism

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181. Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome Full Text available with Trip Pro

Audit of Organic Acidurias from a Single Centre: Clinical and Metabolic Profile at Presentation with Long Term Outcome Organic Acidurias (OA) accounts between 10% and 40% of confirmed Inborn Errors of Metabolism (IEM) in India. With prompt recognition and management, better survival but adverse neurodevelopmental outcome is reported.To study the clinical and metabolic presentation, management with immediate and long term outcome of symptomatic children with confirmed OA.Hospital based study (...) of symptomatic children diagnosed to have OA between 2003 and 2009 and the survivors followed up over next five years. Diagnosis was based on clinical and metabolic presentation and confirmed by spectrometry analyses of urine and blood. Management, immediate outcome, compliance to treatment and recurrence of crises were documented. Neurodevelopmental outcome was assessed in follow up. Mean with Standard Error (Mean ± SE) and frequencies with percentages were calculated.Of 72 cases suspected to have IEM, 38

2017 Journal of clinical and diagnostic research : JCDR

182. Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases Full Text available with Trip Pro

Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders include aminoacidopathies, urea cycle defects, organic acidemias, defects of oxidation of fatty acids, and lysosomal storage diseases. Inborn errors of metabolism constitute a significant proportion of genetic diseases (...) , also collected in small samples like dried blood spots, have been facilitated by the use of mass spectrometry-based techniques. These approaches have enabled the timely diagnosis of inherited metabolic disorders, thereby facilitating early therapeutic intervention. Due to its analytical features, proteomics is suited for the basic investigation of inborn errors of metabolism. Modern approaches enable detailed functional characterization of the pathogenic biochemical processes, as achieved

2017 Kidney Diseases

183. Milk as a Recovery Beverage After Exercise for Improving Metabolic Health

Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: No Layout table for additional information Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Additional relevant MeSH terms: Layout table for MeSH terms Hyperlipidemias Hyperlipoproteinemia Type IV Dyslipidemias Lipid Metabolism Disorders Metabolic Diseases Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Hyperlipoproteinemias Hypertriglyceridemia (...) Milk as a Recovery Beverage After Exercise for Improving Metabolic Health Milk as a Recovery Beverage After Exercise for Improving Metabolic Health - 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. Milk

2017 Clinical Trials

184. Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. Full Text available with Trip Pro

stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis.We report a case of a 10-month-old patient diagnosed with urolithiasis. Screening of inborn errors of metabolism, including the performance of GC/MS urine organic acid profiling and HPLC amino acid profiling, showed abnormalities, which suggested deficiency of GRHPR enzyme. Additional metabolic disturbances observed in the patient led us to seek other genetic determinants and the elucidation of these findings (...) Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate

2017 BMC Medical Genetics

185. Tyrosinosis (inborn hepato-renal dysfunction). Full Text available with Trip Pro

therapy physiopathology Metabolism, Inborn Errors Tyrosine metabolism urine 1966 9 1 1966 9 1 0 1 1966 9 1 0 0 ppublish 5921563 PMC1901262 Biochem J. 1932;26(4):917-40 16744947 Pediatrie. 1961;16:221-9 13760684 Arch Dis Child. 1956 Oct;31(159):335-9 13363479 Acta Paediatr. 1964 Jan;53:18-32 14114313 Br Med J. 1965 Apr 10;1(5440):968-9 14260629 Br Med J. 1964 Nov 7;2(5418):1171-3 14190487 Ann N Y Acad Sci. 1963 Dec 30;111:220-6 14085846 Br Med Bull. 1961 Sep;17:224-9 13786633 Biochem J. 1960 Nov;77(2 (...) Tyrosinosis (inborn hepato-renal dysfunction). 5921563 1967 01 09 2018 11 13 0035-9157 59 9 1966 Sep Proceedings of the Royal Society of Medicine Proc. R. Soc. Med. Tyrosinosis (inborn hepato-renal dysfunction). 814-5 Woolf L I LI eng Journal Article England Proc R Soc Med 7505890 0035-9157 42HK56048U Tyrosine IM Acute Kidney Injury congenital drug therapy physiopathology Adolescent Child Child, Preschool Humans Infant, Newborn Infant, Newborn, Diseases congenital Liver Diseases congenital drug

1966 Proceedings of the Royal Society of Medicine

186. An Inborn Defect of Intestinal Absorption of Certain Monosaccharides Full Text available with Trip Pro

Galactose OM Carbohydrate Metabolism Carbohydrate Metabolism, Inborn Errors Diarrhea Diarrhea, Infantile Diet Diet Therapy Feces Fluids and Secretions Fructose Galactose Glucose Hexoses Humans Infant Infant, Newborn Intestinal Absorption Lactose Maltose Monosaccharides Sucrose Urine Xylose CARBOHYDRATE METABOLISM, INBORN ERRORS DIARRHEA, INFANTILE DIET THERAPY EXCRETION FECES FRUCTOSE GALACTOSE GLUCOSE HEXOSES INFANT, NEWBORN LACTOSE MALTOSE SUCROSE URINE XYLOSE 1965 2 1 1965 2 1 0 1 1965 2 1 0 0 (...) An Inborn Defect of Intestinal Absorption of Certain Monosaccharides 14259267 1996 12 01 2018 12 01 0003-9888 40 1965 Feb Archives of disease in childhood Arch. Dis. Child. AN INBORN DEFECT OF INTESTINAL ABSORPTION OF CERTAIN MONOSACCHARIDES. 1-6 ANDERSON C M CM KERRY K R KR TOWNLEY R R RR eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Hexoses 0 Monosaccharides 30237-26-4 Fructose 57-50-1 Sucrose 69-79-4 Maltose A1TA934AKO Xylose IY9XDZ35W2 Glucose J2B2A4N98G Lactose X2RN3Q8DNE

1965 Archives of Disease in Childhood

187. Gestational dating by metabolic profile at birth: a California cohort study Full Text available with Trip Pro

as born preterm, which has both short- and long-term clinical care and public health implications.We sought to evaluate whether metabolic markers in newborns measured as part of routine screening for treatable inborn errors of metabolism can be used to develop a population-level metabolic gestational dating algorithm that is robust despite intrauterine growth restriction and can be used when fetal ultrasound dating is not available. We focused specifically on the ability of these markers (...) Gestational dating by metabolic profile at birth: a California cohort study Accurate gestational dating is a critical component of obstetric and newborn care. In the absence of early ultrasound, many clinicians rely on less accurate measures, such as last menstrual period or symphysis-fundal height during pregnancy, or Dubowitz scoring or the Ballard (or New Ballard) method at birth. These measures often underestimate or overestimate gestational age and can lead to misclassification of babies

2016 EvidenceUpdates

188. Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

1, 2017 See Sponsor: Rigshospitalet, Denmark Information provided by (Responsible Party): Karen Lindhardt Madsen, Rigshospitalet, Denmark Study Details Study Description Go to Brief Summary: This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise. Condition or disease Intervention/treatment Phase Metabolism, Inborn Errors Lipid Metabolism, Inborn Errors (...) Carbohydrate Metabolism, Inborn Errors Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV) Carnitine Palmitoyl Transferase 2 Deficiency VLCAD Deficiency Medium-chain Acyl-CoA Dehydrogenase Deficiency Multiple Acyl-CoA Dehydrogenase Deficiency Carnitine Transporter Deficiency Neutral Lipid Storage Disease Glycogen Storage Disease Type II Glycogen Storage Disease Type III Glycogen Storage Disease Type IV Glycogen Storage Disease Type V Muscle

2015 Clinical Trials

189. Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis

: September 22, 2011 Last Update Posted: August 16, 2016 Last Verified: August 2016 Keywords provided by Retrophin, Inc.: Cholic Acid Inborn Error Bile Acid Metabolism Inborn Error of Bile Acid Synthesis Additional relevant MeSH terms: Layout table for MeSH terms Bile Acids and Salts Cholic Acids Gastrointestinal Agents (...) Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis - 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

2011 Clinical Trials

190. Genetic and metabolic testing on children with global developmental delay

factors considered in planning the laboratory evaluation of such children. GLOSSARY AAN = American Academy of Neurology ; BAC = bacterial artificial chromosome ; CDG = congenital disorders of glycosylation ; DQ = developmental quotient ; DXL = definite X-linkage ; GDD = global developmental delay ; ID = intellectual disability ; IEM = inborn errors of metabolism ; PXL = possible X-linkage ; UXL = unknown X-linkage ; XLID = X-linked intellectual disability Children aged less than 6 years are considered (...) to 10% of all cases of GDD/ID. Testing of XLID genes has a yield of 42% in males from definitely X-linked families and of 17% in males from possibly X-linked families (Class III). FMR1 testing has a combined yield of at least 2% in male and female subjects with mild GDD/ID (Class II and III). MeCP2 mutations are found in 1.5% of girls with moderate/severe GDD/ID and in less than 0.5% of males with GDD/ID (Class III). Metabolic testing. Inborn errors of metabolism (IEMs) are a diverse collection

2011 American Academy of Neurology

191. Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis. (Abstract)

Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis. Glycogen storage disease type III (GSDIII) is an inborn error of carbohydrate metabolism caused by deficient activity of glycogen debranching enzyme (GDE). It is characterized by liver, cardiac muscle and skeletal muscle involvement. The presence of systemic complications such as growth retardation, ovarian polycystosis, diabetes mellitus (...) and osteopenia/osteoporosis has been reported. The pathogenesis of osteopenia/osteoporosis is still unclear.The aim of the current study was to evaluate the bone mineral density (BMD) in GSDIII patients and the role of metabolic and endocrine factors and physical activity on bone status.Nine GSDIII patients were enrolled (age 2-20years) and compared to eighteen age and sex matched controls. BMD was evaluated by Dual-emission-X-ray absorptiometry (DXA) and Quantitative ultrasound (QUS). Clinical

2016 Bone

192. In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis Full Text available with Trip Pro

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis Primary hyperoxaluria type I (PH1) is an autosomal-recessive inborn error of liver metabolism caused by alanine:glyoxylate aminotransferase (AGT) deficiency. In silico modeling of liver metabolism in PH1 recapitulated accumulation of known biomarkers as well as alteration of histidine and histamine levels, which we confirmed in vitro, in vivo, and in PH1 patients. AGT-deficient (...) vascular permeability, and decreases urinary oxalate levels. Our work demonstrates that genome-scale metabolic models are clinically relevant and can link genotype to phenotype in metabolic disorders.Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

2016 Cell reports

193. Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders Full Text available with Trip Pro

) for the treatment of NAGS deficiency as well as for the treatment of hyperammonenia in propionic, methylmalonic and isovaleric acidemias in Europe.The history, mechanism of action, and efficacy of this new drug are described. Moreover, clinical utility of NCG in a variety of inborn errors of metabolism with secondary NAGS deficiency is discussed.NCG has favorable pharmacological features including better bioavailability compared to NAG. The clinical use of NCG has proven to be so effective as to make dietary (...) protein restriction unnecessary for patients with NAGS deficiency. It has been also demonstrated to be effective for hyperammonemia secondary to other types of inborn errors of metabolism. NCG may have additional therapeutic potential in conditions such as hepatic hyperammonemic encephalopathy secondary to chemotherapies or other liver pathology.

2016 Expert review of endocrinology & metabolism

194. Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review Full Text available with Trip Pro

Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review To assess the quality of life (QoL) of children in Japan with inborn errors of metabolism (IEM) as well as of their parents, we reviewed 23 previous studies published in Japanese and 1 published in English, focusing on the difficulties they encounter in daily life, the factors associated with these difficulties, and their QoL. We divided (...) age because of their diet therapy. At the adolescence-to-adulthood stage, the children suffered medically, economically, and socially. Even in the absence of any IEM symptoms, the children's QoL was affected by the demands associated with the metabolic disorder, such as diet and treatment. The psychological health of their caregivers was also poor. To improve the QoL of children with IEM and of their parents, future comprehensive quantitative and qualitative studies of their QoL

2016 JIMD reports

195. Advances in Purine and Pyrimidine Metabolism in Health and Diseases Full Text available with Trip Pro

Advances in Purine and Pyrimidine Metabolism in Health and Diseases In June, 2015, the Purine and Pyrimidine Society organized the 16th biennial symposium on Purine and Pyrimidine metabolism at the Faculty House of Columbia University, New York City. This exciting meeting focused on these important molecules, new developments in inborn errors of metabolism; therapeutic analogs. In addition, the biochemistry of mammalian and non-mammalian systems were discussed. Due to significant advances

2016 Nucleosides, nucleotides & nucleic acids

196. Disorders of branched chain amino acid metabolism Full Text available with Trip Pro

as organic acidurias. Disorders in these pathways can present with a neonatal onset severe-, or chronic intermittent- or progressive forms. Metabolic instability and increased morbidity and mortality are shared between inborn errors in the BCAA pathways, while treatment options remain limited, comprised mainly of dietary management and in some cases solid organ transplantation. (...) Disorders of branched chain amino acid metabolism The three essential branched-chain amino acids (BCAAs), leucine, isoleucine and valine, share the first enzymatic steps in their metabolic pathways, including a reversible transamination followed by an irreversible oxidative decarboxylation to coenzyme-A derivatives. The respective oxidative pathways subsequently diverge and at the final steps yield acetyl- and/or propionyl-CoA that enter the Krebs cycle. Many disorders in these pathways

2016 Translational Science of Rare Diseases

197. Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum Full Text available with Trip Pro

metabolism. The importance of peroxisomes for human health and development is exemplified by the existence of a large number of inborn errors of peroxisome metabolism in which there is an impairment in one or more of the metabolic functions of peroxisomes. Although the clinical signs and symptoms of affected patients differ depending upon the enzyme which is deficient and the extent of the deficiency, the disorders involved are usually (very) severe diseases with neurological dysfunction and early death (...) Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA) synthesis; (5.) fatty acid alpha-oxidation; (6.) glyoxylate metabolism; (7.) amino acid degradation, and (8.) ROS/RNS

2016 Frontiers in Cell and Developmental Biology

198. An Impaired Respiratory Electron Chain Triggers Down-regulation of the Energy Metabolism and De-ubiquitination of Solute Carrier Amino Acid Transporters Full Text available with Trip Pro

An Impaired Respiratory Electron Chain Triggers Down-regulation of the Energy Metabolism and De-ubiquitination of Solute Carrier Amino Acid Transporters Hundreds of genes have been associated with respiratory chain disease (RCD), the most common inborn error of metabolism so far. Elimination of the respiratory electron chain by depleting the entire mitochondrial DNA (mtDNA, ρ(0) cells) has therefore one of the most severe impacts on the energy metabolism in eukaryotic cells. In this study (...) , the tricarboxylic acid (TCA) cycle, and the pyruvate metabolism in ρ(0) cells. Metabolites of the TCA cycle were dysregulated, such as a reduction of citric acid and cis-aconitic acid (six and 2.5-fold), and an increase of lactic acid, oxalacetic acid (both twofold), and succinic acid (fivefold) in ρ(0) cells. Signaling pathways such as GPCR, EGFR, G12/13 alpha, and Rho GTPases were up-regulated in ρ(0) cells, which could be indicative for the mitochondrial retrograde response, a pathway of communication from

2016 Molecular & cellular proteomics : MCP

199. A metabolic link between the urea cycle and cancer cell proliferation Full Text available with Trip Pro

A metabolic link between the urea cycle and cancer cell proliferation Clinical observations in citrullinemia type I, an inborn error of metabolism, led us to explore the benefits of somatic ASS1 silencing in cancer. We found that downregulation of ASS1 results in preferential utilization of its substrate, aspartate, for pyrimidine synthesis to support cell proliferation. Reducing aspartate availability for pyrimidine synthesis restricted cancerous proliferation.

2016 Molecular & cellular oncology

200. A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia Full Text available with Trip Pro

. Yadav Rajeev Ratan Singh RR Assistant Professor, Department of Emergency Medicine, RML Institute of Medical Sciences , Lucknow, Uttar Pradesh, India . eng Journal Article 2016 03 01 India J Clin Diagn Res 101488993 0973-709X Inborn Errors of Metabolism (IEM) Neonates and Children 2015 10 29 2016 01 18 2016 5 3 6 0 2016 5 3 6 0 2016 5 3 6 1 ppublish 27134976 10.7860/JCDR/2016/17591.7378 PMC4843361 J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):261-74 16763886 (...) A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia 27134976 2016 05 02 2018 11 13 2249-782X 10 3 2016 Mar Journal of clinical and diagnostic research : JCDR J Clin Diagn Res A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia. UL01-2 10.7860/JCDR/2016/17591.7378 Singh Vipin Kumar VK Assistant Professor, Department of Anaesthesiology and Critical Care, KGMU , Lucknow, Uttar Pradesh, India

2016 Journal of clinical and diagnostic research : JCDR

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