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Inborn Errors of Metabolism

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81. Carnitine supplementation for inborn errors of metabolism. (PubMed)

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

2009 Cochrane

82. Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis (PubMed)

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a defect in GS is incompatible with normal life. Mutations in the human GLUL gene (encoding for GS (...) ) can cause an ultra-rare recessive inborn error of metabolism-congenital glutamine synthetase deficiency. This disease was reported until now in only three unrelated patients, all of whom suffered from neonatal onset severe epileptic encephalopathy. The hallmark of GS deficiency in these patients was decreased levels of glutamine in body fluids, associated with chronic hyperammonemia. This review aims at recapitulating the clinical history of the three known patients with congenital GS deficiency

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2016 Biology

83. ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. (PubMed)

ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. Acyl-CoA oxidase (ACOX2) is involved in the shortening of C27 cholesterol derivatives to generate C24 bile acids. Inborn errors affecting the rest of peroxisomal enzymes involved in bile acid biosynthesis have been described. Here we aimed at investigating the case of an adolescent boy with persistent hypertransaminasemia of unknown origin and suspected dysfunction in bile (...) is a biochemical sign of liver damage due to multiplicity of causes (viruses, toxins, autoimmunity, metabolic disorders). In rare cases the origin of this alteration remains unknown. We have identified by the first time in a young patient and his only sister a familiar genetic defect of an enzyme called ACOX2, which participates in the transformation of cholesterol into bile acids as a cause of increased serum transaminases in the absence of any other symptomatology. This treatable condition should

2016 Journal of Hepatology

84. Inborn Errors of Long Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism (PubMed)

Inborn Errors of Long Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism Inborn errors of metabolism (IEMs) occur with high incidence in human populations. Especially prevalent among these are inborn deficiencies in fatty acid β-oxidation (FAO), which are clinically associated with developmental neuropsychiatric disorders, including autism. We now report that neural stem cell (NSC)-autonomous insufficiencies in the activity of TMLHE (an autism risk factor that supports

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2016 Cell reports

85. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. (PubMed)

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme activity. In contrast to HIBCH deficiency (...) , the excretion of 3-hydroxyisobutyryl-carnitine was normal in the children, suggesting deficiency of short-chain enoyl-CoA hydratase (ECHS1 gene). This mitochondrial enzyme is active in several metabolic pathways involving fatty acids and amino acids, including valine, and is immediately upstream of HIBCH in the valine pathway. Both children were compound heterozygous for a c.473C > A (p.A158D) missense mutation and a c.414+3G>C splicing mutation in ECHS1. ECHS1 activity was markedly decreased in cultured

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2014 Brain

86. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. (PubMed)

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. Frequent early (...) ' as an emerging subclass of inborn errors of metabolism by using the examples of six recently identified monogenic diseases: EPG5-related Vici syndrome, beta-propeller protein-associated neurodegeneration due to mutations in WDR45, SNX14-associated autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG11, ZFYVE26 and TECPR2 mutations, respectively. We also highlight associations between defective

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2015 Brain

87. Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations. (PubMed)

Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations. Inborn errors of metabolism are on the differential for patients presenting with a cyclic vomiting syndrome phenotype. Classes of disorders to consider include: mitochondrial disorders, fatty acid oxidation disorders, urea cycle defects, organic acidurias, and acute intermittent porphyria.This article reviews the metabolic differential diagnosis and approach to screening for inborn errors (...) in children and adults presenting with a cyclic or recurrent vomiting phenotype.Cyclic vomiting syndrome is thought to be an episodic syndrome that may be associated with migraine. It is a diagnosis of exclusion. Inborn errors of metabolism should be considered in the patient presenting with a recurrent vomiting phenotype. Mitochondrial dysfunction may play a role in cyclic vomiting syndrome, and true mitochondrial disorders can present with a true cyclic vomiting phenotype.© 2015 American Headache

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2015 Headache

88. Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism (PubMed)

Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism 26629393 2015 12 02 2018 11 13 2075-051X 15 4 2015 Nov Sultan Qaboos University medical journal Sultan Qaboos Univ Med J Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism. e572-3 10.18295/squmj.2015.15.04.026 Vasikarla Madhavi M Departments of Genetics, Fernandez Hospital, Hyderabad, India. Pandita Aakash A Neonatology, Fernandez

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2015 Sultan Qaboos University medical journal

89. Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014) (PubMed)

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014) This study reports on the inborn errors of metabolism (IEM) detected by our national newborn screening between 2011 and 2014. One hundred fourteen patients (55 UAE citizens and 59 residents) were diagnosed during this period. The program was most comprehensive (tested 29 IEM) and universally applied in 2013, giving an incidence of 1 in 1,787 citizens. This relatively high prevalence

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2015 JIMD reports

90. A next generation multiscale view of inborn errors of metabolism (PubMed)

A next generation multiscale view of inborn errors of metabolism Inborn errors of metabolism (IEM) are not unlike common diseases. They often present as a spectrum of disease phenotypes that correlates poorly with the severity of the disease-causing mutations. This greatly impacts patient care and reveals fundamental gaps in our knowledge of disease modifying biology. Systems biology approaches that integrate multi-omics data into molecular networks have significantly improved our understanding

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2015 Cell metabolism

91. Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism (PubMed)

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism Mitochondria play a key role in overall cell physiology and health by integrating cellular metabolism with cellular defense and repair mechanisms in response to physiological or environmental changes or stresses. In fact, dysregulation of mitochondrial stress responses and its consequences in the form of oxidative stress, has been linked to a wide variety of diseases including inborn errors (...) of metabolism. In this review we will summarize how the functional state of mitochondria -- and especially the concentration of reactive oxygen species (ROS), produced in connection with the respiratory chain -- regulates cellular stress responses by redox regulation of nuclear gene networks involved in repair systems to maintain cellular homeostasis and health. Based on our own and other's studies we re-introduce the ROS triangle model and discuss how inborn errors of mitochondrial metabolism

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2015 Journal of Inherited Metabolic Disease

92. Inborn Errors of Metabolism: Advances in Diagnosis and Therapy. (PubMed)

Inborn Errors of Metabolism: Advances in Diagnosis and Therapy. Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of many IEMs via modalities such as whole

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2015 JAMA pediatrics

93. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism (PubMed)

Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern.We report ASD deficiency in a 2- and 4-year-old sibling. On them, we described clinical, biochemical, and molecular

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2015 JIMD reports

94. Adolescent Presentations of Inborn Errors of Metabolism. (PubMed)

Adolescent Presentations of Inborn Errors of Metabolism. Several studies have shown that a large percentage of inborn errors of metabolism is present in adolescent patients. Individually, each diagnosis in this category of diseases is rare; therefore, there is often a significant delay in determining the etiology of a patient's complaints. These disorders can have a wide variety of multisystemic presentations, several of which overlap with more common disorders of adolescence. This review (...) highlights the red-flag findings on history and physical examination indicating a possible inborn error of metabolism. In addition, a systematic approach for evaluating and categorizing these disorders is introduced and demonstrated through case examples. Primary care physicians play a crucial role in the early detection and prompt treatment of patients with late-onset inborn errors of metabolism. Copyright © 2015 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

2015 The Journal of Adolescent Health

95. Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. (PubMed)

Seizures and epilepsy in hypoglycaemia caused by inborn errors of metabolism. The aim of the study was to characterize seizures and epilepsy related to hypoglycaemia.We analyzed the files of 170 consecutive patients referred for hypoglycaemia (onset 1h to 4y) caused by inborn errors of metabolism (glycogen storage disease type I, fatty acid β-oxidation disorders, and hyperinsulinism).Ninety patients (42 males and 48 females; 38 neonates and 52 infants/children) had brief hypoglycaemic seizures (...) (68%) or status epilepticus (32%). Status epilepticus occurred earlier (mean 1.4d) than brief neonatal seizures (4.3d, p=0.02). Recurrent status epilepticus followed initial status epilepticus and was often triggered by fever. Epilepsy developed in 21 patients. In 18 patients, epilepsy followed hypoglycaemic status epilepticus and began with shorter delay when associated with grey matter lesions (1.9mo, standard error of the mean [SEM] 1mo) than with white matter damage (3.3y [SEM 1y], p=0.003

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2014 Developmental Medicine and Child Neurology

96. Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH. (PubMed)

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH. Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, ichthyosis, skeletal anomalies, and perinatal lethality. The pathogenesis of NLS remains unclear despite extensive clinical and pathological phenotyping of the >70 affected individuals reported to date, emphasizing the need to identify (...) of de novo serine synthesis, and complete deficiency of its mouse ortholog recapitulates many of the key features of NLS. This study shows that NLS represents the extreme end of a known inborn error of serine metabolism and highlights the power of genomic sequencing in revealing the unsuspected allelic nature of apparently distinct clinical entities. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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2014 American Journal of Human Genetics

97. Occasional seizures, epilepsy, and inborn errors of metabolism. (PubMed)

Occasional seizures, epilepsy, and inborn errors of metabolism. Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement disorders, and cognitive disturbances. However, the occurrence of epilepsy associated with inborn errors of metabolism represents a major challenge that needs to be identified quickly (...) ; for some cases, specific treatments are available, metabolic decompensation might be avoided, and accurate counselling can be given about recurrence risk. Some clinical presentations are more likely than others to point to an inborn error of metabolism as the cause of seizures. Knowledge of important findings at examination, and appropriate biochemical investigation of children with seizures of uncertain cause, can aid the diagnosis of an inborn error of metabolism and ascertain whether

2014 Lancet Neurology

98. Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol

Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol - 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. Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol 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: NCT02322177 Recruitment Status : Completed First Posted : December 23, 2014 Last Update Posted : August 23, 2018 Sponsor: National Human Genome Research Institute

2014 Clinical Trials

99. Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism. (PubMed)

Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism. Intermittent hemodialysis (IHD) is the most efficient form of renal replacement therapy (RRT) for removing toxic substances from patients' bodies. However, the efficacy and safety of IHD in infants and young children with inborn errors of metabolism are still not clear.This retrospective study included patients with urea cycle disorders, maple syrup urine disease, and methylmalonic (...) . There was one procedure-unrelated death. Catheter penetration occurred in one course of IHD. The efficacy data revealed that both the median duration of dialysis and the median 50 % toxin reduction time were shorter in IHD than in non-IHD RRT.In infants and young children with inborn errors of metabolism, IHD is safe and more efficient than non-IHD RRT at removing toxins.

2014 Pediatric Nephrology

100. Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review. (PubMed)

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review. In recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growing group of long-term survivors. However, IT-IEM still (...) require intense patient and caregiver effort in terms of strict dietetic and pharmacological treatment, and the threat of metabolic crises is always present. Furthermore, crises can affect the central nervous system (CNS), leading to cognitive, behavioural and psychiatric sequelae. Consequently, the well-being of the patients warrants consideration from both a medical and a psychosocial viewpoint by assessing health-related quality of life (HrQoL), psychological adjustment, and adaptive functioning

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2014 Orphanet journal of rare diseases

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