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Inborn Error of Small Molecule Metabolism

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21. Drugs for Rare Diseases: Evolving Trends in Regulatory and Health Technology Assessment Perspectives

largest therapeutic categories, accounting for 17% of approvals each, were gastrointestinal disorders and inborn errors of metabolism, and neurological conditions. Immunological diseases and rheumatology disorders each represented 8% of approvals for this time period. The remaining 17% of approvals were other therapeutic areas, each representing less than 5%. 40 Orphan Drug Designation and Approval Trends in the European Union In the year 2000, the Regulation on Orphan Medicinal Products of the EU (...) -000 Product Line: Research Type: Drug Issue: 42 Result type: Report Background Drugs for rare diseases (DRDs), also referred to as orphan drugs in some jurisdictions, are typically small-molecule drugs or biopharmaceuticals (referred to collectively herein as “drugs”) used to treat rare diseases. Due to a shift in the focus of the biopharmaceutical industry’s research and development priority from blockbuster to niche drugs, the DRD pipeline and the number of marketed DRDs are expanding

2016 Canadian Agency for Drugs and Technologies in Health - Environmental Scanning

22. Clinical Practice Parameters for Hemodynamic Support of Pediatric and Neonatal Septic Shock

& Issues Collections For Authors Journal Info > > American College of Critical Care Medicine Clinical Practice... Email to a Colleague Colleague's E-mail is Invalid Your Name: (optional) Your Email: Colleague's Email: Separate multiple e-mails with a (;). Message: Thought you might appreciate this item(s) I saw at Critical Care Medicine. Send a copy to your email Your message has been successfully sent to your colleague. Some error has occurred while processing your request. Please try after some time (...) . Article Tools Share this article on: Email to a Colleague Colleague's E-mail is Invalid Your Name: (optional) Your Email: Colleague's Email: Separate multiple e-mails with a (;). Message: Thought you might appreciate this item(s) I saw at Critical Care Medicine. Send a copy to your email Your message has been successfully sent to your colleague. Some error has occurred while processing your request. Please try after some time. Export to End Note Procite Reference Manager Save my selection doi: 10.1097

2017 Society of Critical Care Medicine

23. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of NASPGHAN and ESPGHAN

and discovery of new etiologies, now clinically discoverable with the use of available next-generation DNA sequencing technologies (see following sections). Other causes of neonatal cholestasis include extrahepatic obstruction from common duct gallstones or choledochal cyst; metabolic disorders such as tyrosinemia type I, galactosemia, and inborn errors of bile acid metabolism; panhypopituitarism; Alagille syndrome (ALGS); infection; parenteral nutrition (PN)- associated liver disease and a broad array (...) salt export pump (30) PFIC3 Elevated GGTP ABCB4 Phospholipid ?ippase responsible for phosphatidylcholine transport into bile (31) Tight junction protein 2 mutations Severe cholestasis TJP2 Failure of tight junctions and protein localization (32) Transient neonatal cholestasis (neonatal hepatitis) GGTP and AP 200 to 400 IU/L, ALT and AST 80 to 200 IU/L, LB negative for obstruction ATP8B1; ABCB11; ABCB4 FIC1 polymorphisms; MDR3 polymorphisms (19,33) Inborn errors of metabolism Urea cycle defects

2017 North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition

24. Nutrigenomics, the Microbiome, and Gene-Environment Interactions: New Directions in Cardiovascular Disease Research, Prevention, and Treatment

of monogenic disorders typically accounts for only a small proportion of the total CVD observed in the population. There has been less progress in developing genetic testing for complex CVD because individual common variants usually have only a modest impact on risk. Exome sequencing approaches may begin to address this; rare coding mutations in LDLR and APOA5 were found to affect MI risk in the general population through modulation of low-density lipoprotein (LDL) and triglyceride metabolism. , However (...) interactions among genes, diet, and downstream networks are not well understood. The application of nutrigenomics approaches to questions of human health and disease is an important component in understanding the complexities of the interplay between basic metabolic processes and external influences in disease processes and has important implications for the development of more targeted strategies in disease prevention and treatment. Analogous to pharmacogenomics, nutrigenomics has the potential

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2016 American Heart Association

25. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®): Health Professional Version

surgical intervention. are biologically quite aggressive, so early and extensive (e.g., radical nephrectomy or partial nephrectomy with wide margins) may be necessary. Targeted therapies including the use of in a combination regimen and are currently under investigation. generally need no intervention. If symptomatic, surgery, cryoablation, and/or laser therapy may be considered. A small randomized controlled trial has shown that may improve quality of life in HLRCC patients with painful skin lesions (...) diagnosed with VHL. Within this population, the large number of unique pathogenic variants in this small three-exon gene indicates that most family clusters have not arisen from a single founder. Penetrance of pathogenic variants VHL pathogenic variants are highly , with manifestations found in more than 90% by age 65 years.[ ] Almost all develop one or more types of syndrome-related neoplasms. Risk factors for VHL Each offspring of an individual with VHL has a 50% chance of inheriting the VHL

2018 PDQ - NCI's Comprehensive Cancer Database

26. Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version

errors and, in rare instances, could be fictitious.[ , , ] The most reliable documentation of cancer histology is the pathology report. Verification of cancers can also be made through other medical records, tumor registries, or death certificates. Determining Cancer Risk Analysis of the family history Because a family history of cancer is one of the important predictors of cancer risk, analysis of the pedigree constitutes an important aspect of risk assessment. This analysis might be thought

2018 PDQ - NCI's Comprehensive Cancer Database

27. The Nobel Disease strikes again: Luc Montagnier goes full antivax, with a little help from Henri Joyeux

,and rare,genetic disorders,with two distinct sets of mutations.One a recognized inborn error of metabolism,that supposedly only a couple of dozen cases exist of in the world,the other,a rare disorder,related to a unique expression of a rare cancer gene,that is probably the basis for all of my immune based medical problems.This may not be that unusual for regressive autism.Had I been born two or three decades later with the same conditions,my mother and I might have thought it was vaccines too.My (...) to orthomolecular medicine is , a form of quackery in which massive overtesting is used to measure every biological molecule under the sun, after which the functional medicine doctor will try to , . Although it’s not orthomolecular medicine, functional medicine is based on the same sort of dubious ideas that Pauling promoted. As for cancer, the best that can be said about high dose vitamin C is that it might have some mild anticancer activity, but that the doses required are so high that it’s . Another example

2017 Respectful Insolence

28. I love it when an antivax “study” meant to show how “dirty” vaccines are backfires so spectacularly

it, the dose makes the poison, and the amount in vaccines is very much low enough not to pose a health threat. Also, formaldehyde is a product of normal metabolism present in the bloodstream of infants at a level . So fearful of contamination of the precious bodily fluids of their babies are antivaccinationists (and, let's be real, it really does boil down to just that in many cases) that it's not enough to demonize vaccines based on the harmless ingredients that do make them up. They have to go beyond (...) and that particles are not molecules [as has been pointed out in the comments]. I did it not to be perfectly scientifically, chemically accurate in a way that I'd do if I were in the lab doing an experiment. I used this example just to illustrate how a large number like 1,821 is not so very large at all. Then remember that 1,821 was the largest number of particles found in any vaccine. The vast majority of them contained many fewer particles, sometimes single digits numbers. Moreover, I note that the authors

2017 Respectful Insolence

29. Chenodeoxycholic acid sigma-tau - cerebrotendinous xanthomatosis

exceptional circumstances to Chenodeoxycholic acid sigma-tau. • The CHMP adopted a report on similarity of Chenodeoxycholic acid sigma-tau with authorised orphan medicinal products on 15 September 2016. 2. Scientific discussion 2.1. Introduction Problem statement The inborn errors of bile acid synthesis are a category of metabolic liver diseases (Setchell & Heubi, 2006). These conditions are extremely rare genetic disorders. Individuals with inborn errors of bile acid synthesis lack the enzymes needed (...) indication: Chenodeoxycholic acid is indicated for the treatment of inborn errors of primary bile acid synthesis due to sterol 27 hydroxylase deficiency (presenting as cerebrotendinous xanthomatosis (CTX)) in infants, children and adolescents aged 1 month to 18 years and adults. Chenodeoxycholic acid sigma-tau was designated as an orphan medicinal product EU/3/14/1406 on 16 December 2014. Chenodeoxycholic acid sigma-tau was designated as an orphan medicinal product in the following indication: Treatment

2017 European Medicines Agency - EPARs

30. Liver Transplantation, evaluation of the pediatric patient

, Vol. 60, No. 1, 2014 SQUIRES ET AL. 379Primary Hyperoxaluria Type 1. Primary hyperox- aluria Type 1 (PH1) is an autosomal recessive inborn error of glyoxylate metabolism, caused by a de?ciency of the liver-speci?c peroxisomal enzyme alanine:glyoxy- late aminotransferase (AGT). PH1 results in overpro- duction and excessive urinary excretion of oxalate, causing recurrent nephrolithiasis, nephrocalcinosis, or endstage kidney disease. Patients experience progressive decline in renal function and death (...) reveal a portion of children will have a slowly progressive course which may either sta- bilize or continue toward decompensated liver dis- ease. 272 Hepatocellular carcinoma can develop in children with cirrhosis and A-1ATD. 273 New medical therapies for A-1ATD are being investigated. 274 Bile Acid Synthesis Disorders. Inborn errors resulting in bile acid synthesis disorders (BASD) most commonly present as neonatal cholestasis or neonatal hepatitis, but can present as chronic liver disease in older

2014 American Association for the Study of Liver Diseases

31. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

control, which further inhibits normal growth, development, and overall metabolic control. The aim should be to keep BG =70 and to avoid rapid glucose fluxes. Nutrition therapy. Recurrent hypoglycemia causes lactic acidosis, hepatomegaly, hypertriglyceridemia, hyperuricemia, and failure to thrive in the young child. Thus, avoidance of fasting is the first line of treatment in GSD I. To prevent hypoglycemia, small frequent feedings high in complex carbohydrates (preferably those higher in fiber (...) , Durham, North Carolina, USA; 2 Division of Metabolic Disorders, Children’ s Hospital of Orange County, Orange, California, USA; 3 Division of Genetics, Nemours Children’ s Clinic, Jacksonville, Florida, USA; 4 Departments of Pediatrics and Medicine, Columbia University Medical Center, New Y ork, New Y ork, USA; 5 Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA; 6 Department of Medicine, University of W ashington, Seattle, W ashington, USA; 7 Division

2014 American College of Medical Genetics and Genomics

32. Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy (PubMed)

elucidation of small molecules in patient body fluids. While both are powerful techniques, several limitations exist that often make the identification of unknown compounds challenging. Here, we describe how infrared ion spectroscopy has the potential to be a valuable orthogonal technique that provides highly-specific molecular structure information while maintaining ultra-high sensitivity. Here, we characterize and distinguish two well-known biomarkers of inborn errors of metabolism, glutaric acid (...) Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy The identification of molecular biomarkers is critical for diagnosing and treating patients and for establishing a fundamental understanding of the pathophysiology and underlying biochemistry of inborn errors of metabolism. Currently, liquid chromatography/high-resolution mass spectrometry and nuclear magnetic resonance spectroscopy are the principle methods used for biomarker research and for structural

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2018 Journal of Inherited Metabolic Disease

33. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®): Health Professional Version

surgical intervention. are biologically quite aggressive, so early and extensive (e.g., radical nephrectomy or partial nephrectomy with wide margins) may be necessary. Targeted therapies including the use of in a combination regimen and are currently under investigation. generally need no intervention. If symptomatic, surgery, cryoablation, and/or laser therapy may be considered. A small randomized controlled trial has shown that may improve quality of life in HLRCC patients with painful skin lesions (...) diagnosed with VHL. Within this population, the large number of unique pathogenic variants in this small three-exon gene indicates that most family clusters have not arisen from a single founder. Penetrance of pathogenic variants VHL pathogenic variants are highly , with manifestations found in more than 90% by age 65 years.[ ] Almost all develop one or more types of syndrome-related neoplasms. Risk factors for VHL Each offspring of an individual with VHL has a 50% chance of inheriting the VHL

2016 PDQ - NCI's Comprehensive Cancer Database

34. Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version

errors and, in rare instances, could be fictitious.[ , , ] The most reliable documentation of cancer histology is the pathology report. Verification of cancers can also be made through other medical records, tumor registries, or death certificates. Determining Cancer Risk Analysis of the family history Because a family history of cancer is one of the important predictors of cancer risk, analysis of the pedigree constitutes an important aspect of risk assessment. This analysis might be thought

2016 PDQ - NCI's Comprehensive Cancer Database

35. Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease

MeSH terms: Layout table for MeSH terms Fabry Disease Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Vascular Diseases Cardiovascular Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic (...) by mutations in the GLA gene coding for the enzyme alpha-galactosidase A (α-GAL A). As a consequence globotriaosylceramide (Gb3), the enzyme's substrate, is not metabolized efficiently. The result is progressive accumulation of Gb3 and related glycosphinglolipids, particularly in blood vessels of the skin, kidney, heart and brain, causing severe complications such as cardiomyopathy, left ventricular hypertrophy and other cardiovascular related issues, as well as renal failure and end stage renal disease

2017 Clinical Trials

36. Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria

, 2019 Last Verified: February 2019 Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: No Layout table for additional information Studies a U.S. FDA-regulated Drug Product: Yes Studies a U.S. FDA-regulated Device Product: No Product Manufactured in and Exported from the U.S.: Yes Additional relevant MeSH terms: Layout table for MeSH terms Hyperoxaluria, Primary Hyperoxaluria Kidney Diseases Urologic Diseases Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic (...) provided by the National Library of Medicine related topics: resources: Arms and Interventions Go to Arm Intervention/treatment Experimental: Group A Active (DCR-PHXC) NHVs, single ascending doses of DCR-PHXC. Drug: DCR-PHXC DCR-PHXC is a novel, potent, and long-acting small interference ribonucleic acid (siRNA) molecule conjugated to N-acteylgalactosamine (GalNAc) that is designed to decrease liver oxalate production. DCR-PHXC is delivered via subcutaneous (SC) injection. Placebo Comparator: Group

2017 Clinical Trials

37. Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1

Brain Diseases Central Nervous System Diseases Nervous System Diseases Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn (...) Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1 Outcome Measures Go to Primary Outcome Measures : Sequencing of the Tyrosinemia Type 1 disease related gene [ Time Frame: 4 weeks ] Next-Generation Sequencing (NGS) of the FAH gene will be performed. The mutation will be confirmed by Sanger sequencing. Secondary Outcome Measures : The Tyrosinemia type 1 specific biomarker candidates finding [ Time Frame: 24 months ] The quantitative determination of small molecules

2017 Clinical Trials

38. Biomarker for Homozygous Familial Hypercholesterolemia

provided by (Responsible Party): Centogene AG Rostock Study Details Study Description Go to Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood Condition or disease Lipoprotein Lipase Deficiency Inborn Error of Lipid Metabolism Corneal Arcus Study Design Go to Layout table for study information Study Type : Observational Estimated Enrollment : 1000 participants Observational Model: Cohort Time Perspective (...) : Undecided Layout table for additional information Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Keywords provided by Centogene AG Rostock: familial hypercholesterolaemia Biomarker Additional relevant MeSH terms: Layout table for MeSH terms Hypercholesterolemia Hyperlipoproteinemia Type II Hyperlipoproteinemia Type I Lipid Metabolism, Inborn Errors Arcus Senilis Hyperlipidemias Dyslipidemias Lipid Metabolism Disorders Metabolic Diseases Metabolism, Inborn

2017 Clinical Trials

39. Hyperhidrosis and bromhidrosis. A guide to assessment and management.

, corynebacterium and Propionibacterium can be commonly isolated from the resident microflora in people affected by bromhidrosis, bacterial swabs are unlikely to be useful in guiding management. triethylaminuria is a rare inborn error of metabolism leading to a distinctive fishy odour. 6 Genetic testing is available in Australia, and the condition can be corrected by dietary modification. Management of hyperhydrosis conservative treatment measures have usually been tried and failed by the time the patient (...) at this strength in the axilla. Associated skin irritation can be controlled with 1% hydrocortisone. Iontophoresis iontophoresis is a specialised treatment only available in some states. it utilises a delivery system for small polar molecules into the skin (Figure 1). Figure 2 and Figure 3 provide a visual comparison for the effectiveness of this therapy. the most effective chemical for hyperhidrosis is glycopyrrolate. tap water is much less effective, although there are iontophoresis devices available

2013 Clinical Practice Guidelines Portal

40. KDIGO Clinical Practice Guideline for Acute Kidney Injury

; doi:10.1038/kisup.2012.4 Implications Grade* Patients Clinicians Policy Level 1 ‘‘Werecommend’’ Most people in your situation would want the recommended course of action and only a small proportion would not. Most patients should receive the recommended course of action. The recommendation can be evaluated as a candidate for developing a policy or a performance measure. Level 2 ‘‘We suggest’’ The majority of people in your situation would want the recommended course of action, but many would (...) level of endogenous ?ltration markers, such as creatinine. Recently, Chertow et al. 1 found that an increase of serum creatinine (SCr) of 40.3mg/dl (426.5mmol/l) was independently associated with mortality. Similarly, Lassnigg et al. 3 saw, in a cohort of patients who underwent cardiac surgery, that either an increase of SCr X0.5mg/dl (X44.2mmol/l) or a decrease 40.3mg/dl (426.5mmol/l) was associated with worse survival. The reasons why small alterations in SCr lead to increases in hospital

2012 National Kidney Foundation

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