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Inborn Errors of Metabolism

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61. The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism (PubMed)

The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the products that are used to synthesize essential compounds. There is no report of screening results or confirmed (...) . Blood amino acids and acylcarnitines were checked in the patients who had abnormal GC/MS analyses. Mutation analysis was done in the patients, who were suspected having specific inborn errors of metabolism by mass spectrometric analysis.One hundred thirty-nine children had normal urinary organic acid analyses. Thirty one had metabolites of valproic acid, 17 had non- or hypoketotic dicarboxylic aciduria, 14 had tyrosiluria, 12 had ketosis, 4 had elevation of lactate and pyruvate, 3 had increased

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2016 Molecular genetics and metabolism reports

62. Anesthetic Management of Patients With Inborn Errors of Metabolism. (PubMed)

Anesthetic Management of Patients With Inborn Errors of Metabolism. Inborn errors of metabolism (IEM) are characterized by the body's inability to convert food into energy. The pathogenetic mechanism is based on defects in a variety of cellular enzymes. In addition to impairment of energy generation, accumulation of substrates may occur, which can deposit in tissue and lead to organ dysfunction. IEM can have profound implications for perioperative management, including difficult airway (...) management, cardiac dysfunction, aspiration risk, seizures, and metabolic dysregulation. For the anesthesiologist, comprehensive knowledge is difficult to attain because of the heterogeneity of this group and the low prevalence of specific diseases. The first part of this article reviews intermediary metabolism, whereas the second part aims to highlight important aspects in perioperative management of patients with IEM. Instead of reviewing each single disorder within the vast group of IEM, we provide

2016 Anesthesia and Analgesia

63. Can psychiatric childhood disorders be due to inborn errors of metabolism? (PubMed)

Can psychiatric childhood disorders be due to inborn errors of metabolism? Many patients who visit a centre for hereditary metabolic diseases remarkably also suffer from a child psychiatric disorder. Those child psychiatric disorders may be the first sign or manifestation of an underlying metabolic disorder. Lack of knowledge of metabolic disorders in child psychiatry may lead to diagnoses being missed. Patients therefore are also at risk for not accessing efficacious treatment and proper (...) counselling. To search the literature for the co-occurrence of child psychiatric disorders, such as ADHD, autism, psychosis, learning disorders and eating disorders and metabolic disorders. A search of the literature was conducted by performing a broad search on PubMed, using the terms "ADHD and metabolic disorders", "autism and metabolic disorders", "psychosis and metabolic disorders", "learning disorders and metabolic disorders", and "eating disorders and metabolic disorders". Based on inclusion

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2016 European child & adolescent psychiatry

64. Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. (PubMed)

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes. Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically by population neonatal bloodspot screening (NBS) programmes. However, some patients escape early detection because their symptoms and signs start before NBS test results become available

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2016 Neonatology

65. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents (PubMed)

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents Progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup urine disease is resulting in a growing number of long-term survivors. Consequently, health-related quality of life (HrQoL) of patients is increasingly regarded as a meaningful outcome (...) parameter. To develop the first validated, disease-specific HrQoL questionnaire for IT-IEM, patients and parents were interviewed as content experts to identify major physical and psychosocial constraints and resources.Focus group interviews with 19 paediatric IT-IEM patients and 26 parents were conducted in four metabolic centres in Austria, Germany and Switzerland. Disease-specific HrQoL categories were established by qualitative content analysis.Fourteen disease-specific topics related to the three

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2016 JIMD reports

66. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System (PubMed)

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System 3-Methyl crotonyl CoA carboxylase (3MCC) deficiency is an inborn error of leucine metabolism whose detection was increased with the advent of expanded newborn screening. While most NBS-identified infants appear clinically normal, prior studies suggest a possible increased risk for developmental or metabolic abnormalities. As yet, no predictive markers (...) are known that can identify children at risk for biochemical or developmental abnormalities.All available 3-MCC cases diagnosed by newborn screening in the Inborn Errors of Metabolism Information System (IBEM-IS) were reviewed for markers that might be predictive of outcome.A limited number of cases were identified with traditional biochemical symptoms including acidosis, hyperammonemia or lactic acidosis, and 15% of those with available developmental information had recorded developmental disabilities

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2016 Molecular genetics and metabolism

67. Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions (PubMed)

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions Well-defined and reliable clinical outcome assessments are essential for determining whether a drug provides clinically meaningful treatment benefit for patients. In 2015, FDA convened a workshop, "Assessing Neurocognitive Outcomes in Inborn Errors of Metabolism." Topics covered included special challenges of clinical studies of inborn errors of metabolism (IEMs) and other rare diseases

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2016 Molecular genetics and metabolism

68. 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

69. 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

70. Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism (PubMed)

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism Next-generation sequencing (NGS) technology has allowed the promotion of genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the utility of NGS in the clinical field, a targeted genetic panel approach was designed for the diagnosis of a set of inborn errors of metabolism (IEM). The final aim of the study was to compare the findings for the diagnostic yield of NGS in patients who

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2016 PloS one

71. From structural biology to designing therapy for inborn errors of metabolism (PubMed)

From structural biology to designing therapy for inborn errors of metabolism At the SSIEM Symposium in Istanbul 2010, I presented an overview of protein structural approaches in the study of inborn errors of metabolism (Yue and Oppermann 2011). Five years on, the field is going strong with new protein structures, uncovered catalytic functions and novel chemical matters for metabolic enzymes, setting the stage for the next generation of drug discovery. This article aims to update on recent (...) advances and lessons learnt on inborn errors of metabolism via the protein-centric approach, citing examples of work from my group, collaborators and co-workers that cover diverse pathways of transsulfuration, cobalamin and glycogen metabolism. Taking into consideration that many inborn errors of metabolism result in the loss of enzyme function, this presentation aims to outline three key principles that guide the design of small molecule therapy in this technically challenging field: (1) integrating

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2016 Journal of Inherited Metabolic Disease

72. Inborn Errors of Metabolism Collaborative (IBEMC): Large scale data collection about long-term follow-up for newborn-screened conditions (PubMed)

Inborn Errors of Metabolism Collaborative (IBEMC): Large scale data collection about long-term follow-up for newborn-screened conditions The Inborn Errors of Metabolism Information System (IBEM-IS) collects data on the clinical history of inborn errors of metabolism (IBEMs). The IBEM-IS is accessible to metabolic clinics nationwide and seeks to (i) influence clinical management of affected individuals and (ii) provide information to support public health decision making.Thirty centers in 21

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2016 Genetics in medicine : official journal of the American College of Medical Genetics

73. Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism (PubMed)

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seventy five percent of the population depends on SUS, which thus far does (...) on financial allowances to be effectively launched. In this article, our intention was to describe activities developed in the area of inborn errors of metabolism by a Brazilian reference center. In spite of the lack of support of SUS, thousands of Brazilian families affected by rare genetic metabolic disorders, and many health professionals from all regions of Brazil, already have benefited from the services, training programs and research projects provided by this comprehensive center.

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2016 Orphanet journal of rare diseases

74. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. (PubMed)

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This condition is associated with a wide range of gastrointestinal disorders. Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in a single family. We hypothesize that mutations (...) .(Leu295Pro), in the highly conserved membrane-bound O-acyl transferase (MBOAT) domain of the DGAT1 protein. Expression studies verified reduced amounts of DGAT1 in patient fibroblasts. In a second family, exome sequencing identified a previously reported splice site mutation in intron 8. These cases of DGAT1 deficiency extend the molecular and phenotypic spectrum of PLE, suggesting a re-evaluation of the use of DGAT1 inhibitors for metabolic disorders including obesity and diabetes.

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2016 European Journal of Human Genetics

75. Haematopoietic stem cell transplantation in inborn errors of metabolism. (PubMed)

Haematopoietic stem cell transplantation in inborn errors of metabolism. This review summarizes the main results of haematopoietic stem cell transplantation (HSCT) in selected inborn errors of metabolism (IEMs).Early diagnosis and immediate referral to an IEM specialist is of paramount importance to improve clinical outcome: patients who are transplanted early or in their presymptomatic phase generally achieve better correction of their somatic symptoms and neurocognitive development. Long-term

2016 Current Opinion in Hematology

76. Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. (PubMed)

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. To compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment, and to explore correlations between genotype and biochemical variables.Clinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 (...) individuals with PA enrolled in the Inborn Errors of Metabolism Information System (IBEM-IS) based on the type of initial ascertainment: abnormal newborn screening (NBS), clinical presentation (symptomatic), or family history.The average age at initial evaluation and treatment was significantly younger in patients ascertained via abnormal NBS compared with those referred for clinical symptoms. Furthermore, the majority of individuals ascertained because of abnormal NBS were asymptomatic at diagnosis

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2016 Journal of Pediatrics

77. Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders. (PubMed)

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders. To perform metabolic testing on 406 patients (age range 3-22y [mean 6.71, SD 4.15], 343 males and 63 females) with nonsyndromic autism spectrum disorders (ASD) to assess the diagnostic yield. In addition, we reviewed our hospital's clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (IEM), and described the characteristics of those (...) with IEM and nonsyndromic ASD.Neuropsychological evaluation included the Social Communication Questionnaire and Child Behavior Checklist. For metabolic testing/screening, urine samples were analyzed for the diagnosis of cerebral creatine deficiency syndromes, purine and pyrimidine disorders, amino acid metabolism defects, mucopolysaccharidoses, and organic acidurias.The 406 recruited participants fulfilled the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) criteria of ASD

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2016 Developmental Medicine and Child Neurology

78. 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

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

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

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2018 Frontiers in immunology

80. [Tool for the assessment of drugs for the treatment of inborn errors of metabolism. Anderson- Fabry disease]

[Tool for the assessment of drugs for the treatment of inborn errors of metabolism. Anderson- Fabry disease] Herramientas para la evaluacion de medicamentos para el tratamiento de los errores congenitos del metabolismo. Enfermedad de Anderson Fabry [Tool for the assessment of drugs for the treatment of inborn errors of metabolism. Anderson- Fabry disease] Herramientas para la evaluacion de medicamentos para el tratamiento de los errores congenitos del metabolismo. Enfermedad de Anderson Fabry (...) [Tool for the assessment of drugs for the treatment of inborn errors of metabolism. Anderson- Fabry disease] Abdel-Kader Martin L, Castillo Munoz MA 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 Abdel-Kader Martin L, Castillo Munoz MA. Herramientas para la evaluacion de medicamentos para el tratamiento de los errores congenitos del

2010 Health Technology Assessment (HTA) Database.

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