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Inborn Error of Small Molecule Metabolism


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21. 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

22. 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

23. Rare defects in Adrenal Steroidogenesis Full Text available with Trip Pro

( ). The clinical and laboratory features and key therapeutic approaches in each of these disorders are summarized in . Accurate measurement of steroid hormones, often with very small volumes of blood from infants, is essential. Traditional immunoassays are widely used for this purpose and can be quite reliable in reference laboratories with well-established standards by age and sex. Immunoassays are rapidly being supplanted by liquid chromatography followed by tandem mass spectrometry (LC-MS/MS), which (...) proceeds via DHEA, and not via androstenedione; by contrast, the P450c17 of rodents, cattle and many other animals catalyzes this step efficiently. In the adrenal zona reticularis, 17βHSD5 (encoded by AKR1C3 ) converts small amounts of androstenedione to testosterone, whereas in the testis, this reaction is catalyzed by 17βHSD3 (encoded by HSD17B3 ) and proceeds very efficiently. P450aro (aromatase, encoded by CYP19A1 ) converts androstenedione to estrone and testosterone to estradiol in ovarian

2018 Pediatric Endocrine Society

24. Interventions Targeting Sensory Challenges in Children with Autism Spectrum Disorder - An Update

high risk of bias [ROB]). Populations, intervention approaches, and outcomes assessed varied across studies. Relative to usual care or other interventions, sensory integration–based approaches improved measures related to sensory and motor skills in the short term (3 RCTs with high, moderate, and low ROB and 1 high ROB retrospective cohort study). Environmental enrichment improved nonverbal cognitive skills in treated children compared with standard care in two small RCTs (low and moderate ROB (...) ). Four small RCTs (2 moderate and 2 high ROB) of auditory integration–based approaches reported mixed results. Studies of music therapy (4 RCTs—1 low, 2 moderate, and 1 high ROB—and 1 high ROB nonrandomized trial) used different protocols and addressed different outcomes, precluding synthesis. Massage improved ASD symptom severity and sensory challenges versus a waitlist control condition (7 studies, 5 with likely overlapping participants, 3 moderate and 4 high ROB). Additional RCTs (moderate

2017 Effective Health Care Program (AHRQ)

25. Clinical Practice Parameters for Hemodynamic Support of Pediatric and Neonatal Septic Shock Full Text available with Trip Pro

& 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

26. 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

27. 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

28. Kolbam - cholic acid

discussion 2.1. Introduction Problem statement The inborn errors of bile acid synthesis are a category of metabolic liver disease (Setchell & Heubi, 2006). These conditions are extremely rare genetic disorders and cholic acid has been granted orphan medicinal product status pursuant to Regulation (EC) No 141/2000 for the treatment of inborn errors in primary bile acid synthesis (EU/3/09/683) with a calculated prevalence of 0.07 per 10,000 people in the European Union (EU). Individuals with inborn errors (...) be metabolised to an array of unusual bile acids, several of which have been shown to be hepatotoxic. The absence of primary bile acids causes hepatocytes to continuously metabolize cholesterol in an attempt to established normal bile acid pool. The result is the continued production of high concentrations of these hepatotoxic metabolites, which cause a progressive cholestasis. The liver disease associated with these inborn errors in bile acid synthesis is progressive and, if untreated, may lead to death

2015 European Medicines Agency - EPARs

29. Ravicti - glycerol phenylbutyrate

–scavenging drugs such as HPN-100 and NaPBA. RAVICTIi (HPN-100) is a prodrug of phenylbutyric acid (PBA) and shares the same mechanism of action and metabolic pathway as NaPBA. It is hydrolyzed to glycerol and PBA in the gastrointestinal tract via pancreatic lipases. Because hydrolysis presumably only begins after HPN-100 exits the stomach and enters the proximal small intestine where it is exposed to pancreatic lipases, PBA delivered orally as HPN-100 enters the circulation about 75% more slowly than (...) to end of the T wave QTc time interval between the start of the Q wave and the end of the T wave in the heart's electrical cycle QTc (interval) corrected QT interval RBC red blood cell SAE serious adverse event SAP scientific advisory panel SAP statistical analysis plan SAP scientific advisory panel SD standard deviation SE safety extension SE standard error SIF simulated intestinal fluid Assessment report EMA/676925/2015 Page 6/89 SmPC summary of product characteristics SO switch over SOC system

2015 European Medicines Agency - EPARs

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

predisposition probabilities and/or estimation of empiric cancer risks may be important, especially if decisions about treatments such as risk-reducing surgery will be based on this family history.[ , ] Accuracy varies by cancer site and degree of relatedness.[ , , ] Reporting of cancer family histories may be most accurate for breast cancer [ , ] and less accurate for gynecologic malignancies [ , ] and colon cancer.[ ] Self-reported family histories may contain errors and, in rare instances, could

2018 PDQ - NCI's Comprehensive Cancer Database

31. 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 (...) is a challenge because it requires comprehensive of potentially at-risk blood relatives of individuals 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

2018 PDQ - NCI's Comprehensive Cancer Database

32. 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

2016 American Heart Association

33. Orphacol - cholic acid

Assessment report as adopted by the CHMP with all information of a commercially confidential nature deleted. Assessment report EMA/596651/2013 Page 2/74 Product information Invented name of the medicinal product Orphacol Applicant: Laboratoire CTRS Active substance: Cholic acid Common name: Cholic acid Pharmaco-therapeutic group (ATC code): Bile Acid Preparations (A05AA03) Therapeutic indications: Orphacol is indicated for the treatment of inborn errors in primary bile acid synthesis due to 3ß- Hydroxy (...) /127 on 18 December 2002 in the following indication: treatment of inborn errors in primary bile acid synthesis. The calculated prevalence of this condition was 0.06 per 10,000 EEA population. Following the CHMP positive opinion on this marketing authorisation, the Committee for Orphan Medicinal Products (COMP) reviewed the designation of Orphacol as an orphan medicinal product in the approved indication. The outcome of the COMP review can be found on the Agency's website:

2013 European Medicines Agency - EPARs

34. Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy Full Text available with Trip Pro

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

2018 Journal of Inherited Metabolic Disease

35. 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

36. 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

37. 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

38. 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

39. 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

40. 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

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