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.

150 results for

Inborn Error of Small Molecule 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

1. 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

2. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia (PubMed)

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type (...)  %) were identified to have small molecule diseases and 66 (35.3 %) to have large molecule diseases. Organic acidemias were the most common small molecule IEMs, while lysosomal storage disorders (LSD) were the most common large molecule diseases. Sphingolipidosis were the most common LSD.Our study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high

Full Text available with Trip Pro

2016 Orphanet journal of rare diseases

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

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 (...) 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

Full Text available with Trip Pro

2016 Journal of Inherited Metabolic Disease

4. 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

2015 FP Notebook

5. Assessing Cardiac Metabolism

time, because only 1 substrate can be labeled at any given time with 3 H and 14 C. As a result, for complete assessment of energy metabolic pathways, multiple tracers are required, or serial experiments are needed. This approach differs from labeling techniques with the stable isotope 13 C, in which multiple substrates can be measured at any given time (“Conventional 13 C NMR Evaluation of Cardiac Metabolism”). In short, for optimal labeling of small-molecule metabolites, knowledge of the fates (...) membranes comprising the cardiomyocyte. Protein quality control, autophagy, and the ubiquitin proteasome pathway each are closely intertwined with intermediary metabolism of the cardiomyocyte. (5) Beyond energy metabolism, new roles for mitochondria are increasingly being revealed. The cell’s “power stations” are significant sources of signaling molecules, such as reactive oxygen species (ROS), membrane dipeptidases, cytochrome c, mitochondria-derived activation of caspases (SMAC), and Endo G, all

Full Text available with Trip Pro

2016 American Heart Association

6. Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases (PubMed)

, 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 (...) 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

Full Text available with Trip Pro

2017 Kidney Diseases

7. Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 (PubMed)

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years.The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized (...) according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders.During the study period, 165,530 Saudi Arabian infants were born at Saudi Aramco and 248 were diagnosed with an IEM, corresponding to a cumulative incidence of 150 cases per 100,000 live births. Small

Full Text available with Trip Pro

2010 Annals of Saudi Medicine

8. Advances in Purine and Pyrimidine Metabolism in Health and Diseases (PubMed)

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 (...) in molecular medicine, the boundaries between clinical and basic sciences have merged into exciting translational research, of which a small portion was highlighted in the presymposium.

Full Text available with Trip Pro

2016 Nucleosides, nucleotides & nucleic acids

9. Metabolomics and systems pharmacology: why and how to model the human metabolic network for drug discovery (PubMed)

the important transporters. Small molecule 'drug' transporters are in fact metabolite transporters, because drugs bear structural similarities to metabolites known from the network reconstructions and from measurements of the metabolome. Recon2 represents the present state-of-the-art human metabolic network reconstruction; it can predict inter alia: (i) the effects of inborn errors of metabolism; (ii) which metabolites are exometabolites, and (iii) how metabolism varies between tissues and cellular (...) Metabolomics and systems pharmacology: why and how to model the human metabolic network for drug discovery Metabolism represents the 'sharp end' of systems biology, because changes in metabolite concentrations are necessarily amplified relative to changes in the transcriptome, proteome and enzyme activities, which can be modulated by drugs. To understand such behaviour, we therefore need (and increasingly have) reliable consensus (community) models of the human metabolic network that include

Full Text available with Trip Pro

2014 Drug Discovery Today

10. Disorders of Carbohydrate Metabolism (Diagnosis)

ketoacidosis, hyperosmolar coma, and hypoglycemia, all affect the central nervous system. Many forms and variants of peripheral nerve disease also are seen in diabetes. The remaining disorders of carbohydrate metabolism are the rare inborn errors of metabolism (ie, genetic defects). The inherited defects affecting carbohydrate metabolism that have been discovered so far are inherited as autosomal recessive traits. Although multiple affected siblings may be identified in a kindred, most affected individuals (...) % of specific genetic metabolic diagnoses were made within 1 month of being seen in consultation. Four years after initial consultation, a specific diagnosis was not reached in 5% of patients. The authors concluded that the specific diagnosis of inborn errors of metabolism at a major medical genetic referral center tended to be made quickly, or never. Some of the causes of delays in diagnosis include the lack of ready access to existing diagnostic laboratory testing, technical barriers to the identification

2014 eMedicine.com

11. Inherited Metabolic Disorders (Treatment)

. In a more limited sense, inborn errors of metabolism can be defined as disorders of the mechanisms by which specific major foodstuffs are converted to energy or cellular and tissue building blocks and final products and the mechanisms by which foodstuffs and products are degraded to be excreted. These include mechanisms involving absorption and modification of vitamins and minerals; mechanisms for degrading molecules to provide energy or to be excreted; mechanisms for making acetyl-coenzyme (...) and pathologists (often the same person) were able to apply Sir Francis Bacon's dictum to medicine: "inquire carefully into the origin of things." [ ] Garrod summarized the initial discoveries of the 19th century and the turn of the 20th in his book, Inborn Errors of Metabolism, some 80 years ago. By the mid 1960s, defects that led to the accumulation of metabolic products in the urine, blood, or neural tissues were identified. [ ] These defects were largely problems in the catabolism of lipids and amino acids

2014 eMedicine.com

12. Inherited Metabolic Disorders (Overview)

. In a more limited sense, inborn errors of metabolism can be defined as disorders of the mechanisms by which specific major foodstuffs are converted to energy or cellular and tissue building blocks and final products and the mechanisms by which foodstuffs and products are degraded to be excreted. These include mechanisms involving absorption and modification of vitamins and minerals; mechanisms for degrading molecules to provide energy or to be excreted; mechanisms for making acetyl-coenzyme (...) and pathologists (often the same person) were able to apply Sir Francis Bacon's dictum to medicine: "inquire carefully into the origin of things." [ ] Garrod summarized the initial discoveries of the 19th century and the turn of the 20th in his book, Inborn Errors of Metabolism, some 80 years ago. By the mid 1960s, defects that led to the accumulation of metabolic products in the urine, blood, or neural tissues were identified. [ ] These defects were largely problems in the catabolism of lipids and amino acids

2014 eMedicine.com

13. Disorders of Carbohydrate Metabolism (Overview)

ketoacidosis, hyperosmolar coma, and hypoglycemia, all affect the central nervous system. Many forms and variants of peripheral nerve disease also are seen in diabetes. The remaining disorders of carbohydrate metabolism are the rare inborn errors of metabolism (ie, genetic defects). The inherited defects affecting carbohydrate metabolism that have been discovered so far are inherited as autosomal recessive traits. Although multiple affected siblings may be identified in a kindred, most affected individuals (...) % of specific genetic metabolic diagnoses were made within 1 month of being seen in consultation. Four years after initial consultation, a specific diagnosis was not reached in 5% of patients. The authors concluded that the specific diagnosis of inborn errors of metabolism at a major medical genetic referral center tended to be made quickly, or never. Some of the causes of delays in diagnosis include the lack of ready access to existing diagnostic laboratory testing, technical barriers to the identification

2014 eMedicine.com

14. Disorders of Carbohydrate Metabolism (Treatment)

ketoacidosis, hyperosmolar coma, and hypoglycemia, all affect the central nervous system. Many forms and variants of peripheral nerve disease also are seen in diabetes. The remaining disorders of carbohydrate metabolism are the rare inborn errors of metabolism (ie, genetic defects). The inherited defects affecting carbohydrate metabolism that have been discovered so far are inherited as autosomal recessive traits. Although multiple affected siblings may be identified in a kindred, most affected individuals (...) % of specific genetic metabolic diagnoses were made within 1 month of being seen in consultation. Four years after initial consultation, a specific diagnosis was not reached in 5% of patients. The authors concluded that the specific diagnosis of inborn errors of metabolism at a major medical genetic referral center tended to be made quickly, or never. Some of the causes of delays in diagnosis include the lack of ready access to existing diagnostic laboratory testing, technical barriers to the identification

2014 eMedicine.com

15. Inherited Metabolic Disorders (Follow-up)

. In a more limited sense, inborn errors of metabolism can be defined as disorders of the mechanisms by which specific major foodstuffs are converted to energy or cellular and tissue building blocks and final products and the mechanisms by which foodstuffs and products are degraded to be excreted. These include mechanisms involving absorption and modification of vitamins and minerals; mechanisms for degrading molecules to provide energy or to be excreted; mechanisms for making acetyl-coenzyme (...) and pathologists (often the same person) were able to apply Sir Francis Bacon's dictum to medicine: "inquire carefully into the origin of things." [ ] Garrod summarized the initial discoveries of the 19th century and the turn of the 20th in his book, Inborn Errors of Metabolism, some 80 years ago. By the mid 1960s, defects that led to the accumulation of metabolic products in the urine, blood, or neural tissues were identified. [ ] These defects were largely problems in the catabolism of lipids and amino acids

2014 eMedicine.com

16. Disorders of Carbohydrate Metabolism (Follow-up)

ketoacidosis, hyperosmolar coma, and hypoglycemia, all affect the central nervous system. Many forms and variants of peripheral nerve disease also are seen in diabetes. The remaining disorders of carbohydrate metabolism are the rare inborn errors of metabolism (ie, genetic defects). The inherited defects affecting carbohydrate metabolism that have been discovered so far are inherited as autosomal recessive traits. Although multiple affected siblings may be identified in a kindred, most affected individuals (...) % of specific genetic metabolic diagnoses were made within 1 month of being seen in consultation. Four years after initial consultation, a specific diagnosis was not reached in 5% of patients. The authors concluded that the specific diagnosis of inborn errors of metabolism at a major medical genetic referral center tended to be made quickly, or never. Some of the causes of delays in diagnosis include the lack of ready access to existing diagnostic laboratory testing, technical barriers to the identification

2014 eMedicine.com

17. Inherited Metabolic Disorders (Diagnosis)

. In a more limited sense, inborn errors of metabolism can be defined as disorders of the mechanisms by which specific major foodstuffs are converted to energy or cellular and tissue building blocks and final products and the mechanisms by which foodstuffs and products are degraded to be excreted. These include mechanisms involving absorption and modification of vitamins and minerals; mechanisms for degrading molecules to provide energy or to be excreted; mechanisms for making acetyl-coenzyme (...) and pathologists (often the same person) were able to apply Sir Francis Bacon's dictum to medicine: "inquire carefully into the origin of things." [ ] Garrod summarized the initial discoveries of the 19th century and the turn of the 20th in his book, Inborn Errors of Metabolism, some 80 years ago. By the mid 1960s, defects that led to the accumulation of metabolic products in the urine, blood, or neural tissues were identified. [ ] These defects were largely problems in the catabolism of lipids and amino acids

2014 eMedicine.com

18. Diagnosis and Management of Glycogen Stored Diseases type VI and IX a practice resource of ACMG

as an educational resource. It highlights current practices and therapeutic approaches to the diagnosis and management of the multiple complications of glycogen storage disease (GSD) types VI and IX. GENERAL BACKGROUND Overview Glycogen is the main storage form of carbohydrate in humans. It is most abundant in liver and muscle but is also present in other tissues. Glycogen is a polymer made up of highly branched chains of glucose molecules. In the liver, glycogen acts as a glucose reserve for maintenance (...) 19q13.32 ACMG PRACTICE RESOURCE KISHNANI et al 1234567890():,; 2 Volume 0 | Number 0 | Month | GENETICS in MEDICINEto increased glycogen storage, and hypoglycemia. Unlike GSD I, gluconeogenesis is intact in individuals with GSDs VI and IX. Hypoglycemia consequently is usually less severe than in the classic severe form of GSD I, yet there is a spectrum of clinical severity and some patients have significant life threatening hypoglycemia. Ketosis is usually a prominent metabolic feature in both GSD VI

2019 American College of Medical Genetics and Genomics

19. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

). COR = Class of Recommendation; ICD = implantable cardioverter defibrillator; LOE = Level of Evidence; VT = ventricular tachycardia. Colors correspond to COR in Figure 1 . ---- | ---- Figure 16 Exercise recommendations for individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC). COR = Class of Recommendation; LOE = Level of Evidence. Colors correspond to COR in Figure 1 . ---- | ---- Figure 17 Metabolic equivalents (METs) associated with common types of endurance exercise ( ). x 247

2019 International Society for Heart and Lung Transplantation

20. Neonatal jaundice

for dark urine and/or pale stools · Check NST for inborn errors of metabolism (repeat) · Consider: o G6PD screen; transferase deficiency and red cell membrane disorders o CF–sweat test/genetic markers o Inborn errors of metabolism o Urine MCS, CMV and reducing substances o Abdominal ultrasound Abbreviations: BF Breastfeeding; BGL Blood glucose level; CF Cystic fibrosis; CMV Cytomegalovirus; DAT Direct antiglobulin test; FBC Full blood count; G6PD Glucose 6 dehydrogenase deficiency; INR International (...) and/or excretion) · Congenital infections: o Cytomegalovirus (CMV), Herpes simplex virus o Toxoplasmosis, rubella, syphilis, varicella zoster, parvovirus B19 causing hepatitis · Inborn errors of metabolism (e.g. urea cycle defects, galactasaemia, fatty acid oxidation defects) Decreased excretion of bilirubin 4,23,25 · Conditions causing abnormal biliary ducts, e.g. Alagille Syndrome, choledochal cyst · Increased enterohepatic bilirubin recirculation o Bowel obstruction, pyloric stenosis o Meconium ileus

2018 Queensland Health

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