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Inborn Errors of Metabolism

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1. A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism. (Abstract)

A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism. Outcomes for severe hyperammonemia treated with renal replacement therapy (RRT) reported in the literature vary widely. This has created differing recommendations regarding when RRT is beneficial for hyperammonemic patients.To evaluate our institution's experience with RRT in pediatric patients with inborn errors of metabolism (IEMs) and potential prognostic

2020 Pediatric Nephrology

2. Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency. (Abstract)

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency. It is estimated that 1-5% of sudden infant death syndrome (SIDS) cases might be caused by undiagnosed inborn errors of metabolism (IEMs); however, the postmortem identification of IEMs remains difficult. This study aimed to evaluate the usefulness of dried blood spots (DBSs) stored after newborn screening tests as a metabolic autopsy (...) of acylcarnitine data and subsequent genetic and biochemical analyses are essential for the postmortem diagnosis of inborn errors of metabolism.© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

2018 Journal of Clinical Pathology

3. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients (Full text)

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to analyze a limited amount of metabolites. We now present a single-platform, high-resolution liquid (...) chromatography quadrupole time of flight (LC-QTOF) method that can be applied for holistic metabolic profiling in plasma of individual IEM-suspected patients. This method, which we termed "next-generation metabolic screening" (NGMS), can detect >10,000 features in each sample. In the NGMS workflow, features identified in patient and control samples are aligned using the "various forms of chromatography mass spectrometry (XCMS)" software package. Subsequently, all features are annotated using the Human

2018 Journal of Inherited Metabolic Disease PubMed abstract

4. A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. (Full text)

A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. Manganese is a critical trace element that not only has antioxidant properties, but also is essential for various metabolic pathways and neurotransmitters production. However, it can be toxic at high levels, particularly in the central nervous system. Manganese intoxication can be acquired, but an inherited form due to autosomal-recessive mutations (...) of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by SLC30A10 mutation is a treatable inherited metal deposition syndrome. The patient may only have pure neurological without hepatic manifestations. Although this is a rare and potentially fatal inborn error of metabolism, early diagnosis and continuous chelation therapy might improve the symptoms and prevent disease progression.

2019 BMC Pediatrics PubMed abstract

5. A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. (Full text)

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome sequencing as a second tier screening method to assist clinical diagnosis of the newborn.A novel PCR-exome amplification and re-sequencing (PEARS (...) and heterozygous genotypes in 2 cases of autosomal dominant methioninemia. Analysis of 11 of 12 false positive MS MS samples for other IEM identified heterozygous carriers in 8 cases for the relevant genes associated with the suspected IEM. In the remaining 3 cases, the test revealed compound heterozygote mutations in other metabolic genes not associated with the suspected IEM, indicating a misinterpretation of the original MS MS data.The PEARS assay has clinical utility as a rapid and cost effective second

2019 BMC Medical Genetics PubMed abstract

6. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. (Abstract)

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program. One hundred and forty-one consecutive DNA samples were analyzed by next-generation sequencing using a customized exome sequencing panel. When required, the Illumina (...) of metabolism detected in newborn screening programs. Biochemical tests can be very helpful when a diagnosis is unclear. In summary, simultaneous genomic and metabolomic analyses can increase the number of inborn errors of metabolism that can be confirmed following suggestive newborn screening results.

2019 European Journal of Human Genetics

7. Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014). (Full text)

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014). The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI). To date, the frequency of IEM-associated SUDI has not been studied in Brazil. The present study sought to characterize infant mortality related to IEMs (...) known to cause SUDI disaggregated by each of the regions of Brazil.This was a descriptive, cross-sectional, population-based study of data obtained from the Brazilian Ministry of Health Mortality Information System (SIM). Death records were obtained for all infants (age < 1 year) who died in Brazil in 2002-2014 in whom the underlying cause of death was listed as ICD-10 codes E70 (Disorders of aromatic amino-acid metabolism), E71 (Disorders of branched-chain amino-acid metabolism and fatty-acid

2019 BMC Pediatrics PubMed abstract

8. Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. (Abstract)

Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. Liver transplant (LT) is a therapeutic option for a growing number of inborn errors of metabolism (IEM), including some disorders not confined to the liver. Clinical advantages of LT in maple syrup urine disease (MSUD), methylmalonic acidemia (MMA), and argininosuccinic aciduria (ASA) have been reported. However, no information on the early metabolic effect of LT after portal reperfusion (...) is available in these disorders. Here we describe the intraoperative differential metabolic outcome of LT in MSUD, MMA, and ASA. In these IEM, LT promptly cleared toxic metabolites to safe concentrations. In MSUD, leucine concentration reached physiological concentration within 12 hours after portal reperfusion. In MMA and ASA, LT allowed faster clearance of methylmalonate and argininosuccinate, respectively, both dropping by ∼90% within the first hour after portal reperfusion. The early biochemical

2019 Journal of Pediatric Gastroenterology and Nutrition

9. Carnitine supplementation for inborn errors of metabolism. (Abstract)

Carnitine supplementation for inborn errors of metabolism. Inborn errors of metabolism are genetic conditions which can lead to abnormalities in the synthesis and metabolism of proteins, carbohydrates, or fats. It has been proposed that in some instances carnitine supplementation should be provided to infants with a suspected metabolic disease as an interim measure, particularly whilst awaiting test results. Carnitine supplementation is used in the treatment of primary carnitine deficiency (...) , and also where the deficiency is a secondary complication of several inborn errors of metabolism, such as organic acidaemias and fatty acid oxidation defects in children and adults.To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism.We searched the Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register, the Cochrane Central Register of Controlled Trials (The Cochrane Library 2007, Issue 4) and MEDLINE via

2012 Cochrane

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

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

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

11. Movement Disorders in Treatable Inborn Errors of Metabolism. (Abstract)

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

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

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

13. Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department (Full text)

Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department Our study aimed to estimate the frequency of inborn errors of metabolism (IEMs) in patients presenting with acute encephalopathy-like picture at an emergency department (ED).Our study was a prospective observational study conducted on 30 patients admitted to the pediatric ED with unexplained acute encephalopathy. The study included 30 children with an age ranging from

2018 Neuropsychiatric disease and treatment PubMed abstract

14. Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population (Full text)

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns

2018 Frontiers in genetics PubMed abstract

15. Impact of pregnancy on inborn errors of metabolism (Full text)

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

2018 Reviews in endocrine & metabolic disorders PubMed abstract

16. Bone health in patients with inborn errors of metabolism (Full text)

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.

2018 Reviews in endocrine & metabolic disorders PubMed abstract

17. Inborn-like errors of metabolism are determinants of breast cancer risk, clinical response and survival: a study of human biochemical individuality (Full text)

Inborn-like errors of metabolism are determinants of breast cancer risk, clinical response and survival: a study of human biochemical individuality Breast cancer remains a leading cause of morbidity and mortality worldwide yet methods for early detection remain elusive. We describe the discovery and validation of biochemical signatures measured by mass spectrometry, performed upon blood samples from patients and controls that accurately identify (>95%) the presence of clinical breast cancer (...) . Targeted quantitative MS/MS conducted upon 1225 individuals, including patients with breast and other cancers, normal controls as well as individuals with a variety of metabolic disorders provide a biochemical phenotype that accurately identifies the presence of breast cancer and predicts response and survival following the administration of neoadjuvant chemotherapy. The metabolic changes identified are consistent with inborn-like errors of metabolism and define a continuum from normal controls

2018 Oncotarget PubMed abstract

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

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

2018 Orphanet journal of rare diseases PubMed abstract

19. Flux analysis of inborn errors of metabolism (Full text)

Flux analysis of inborn errors of metabolism Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited (...) to study this. In this review the progress made in characterizing the altered metabolism will be presented. Studies done in patients to estimate the residual flux through the metabolic pathway affected by enzyme deficiencies will be discussed. After this, studies done in model systems will be reviewed. The focus will be on glycogen storage disease type I, medium-chain acyl-CoA dehydrogenase deficiency, propionic and methylmalonic aciduria, urea cycle defects, phenylketonuria, and combined D,L-2

2018 Journal of Inherited Metabolic Disease PubMed abstract

20. The impact of consanguinity on the frequency of inborn errors of metabolism (Full text)

The impact of consanguinity on the frequency of inborn errors of metabolism Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening. Data were obtained from 15 years of expanded newborn screening for selected IEM with autosomal recessive mode of inheritance, a national screening program of newborns covering the period from 2002

2018 Molecular genetics and metabolism reports PubMed abstract

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