41. Faty Acid Oxidative Disorders ÇãÑÇÖ ÇßÓÏÉ ÇáÏåæä Medical College of Wisconsin fatty Acid oxidation Disorder Lab (Milwaukee, WI)William Rhead*, MD, PhD, Director wrhead@mail.mcw.edu Phone (414) 266-2979 http://www.werathah.com/meta/fod.htm

Fatty Acid Oxidative Disorders . ÊÊÖãøä åÐå ÇáÝÍæÕÇÊ ÇÎÐ ÕæÑÉ ááÇÓíáßÇÑäíÊÇíä (Acylcarnitine Profile), æÞíÇÓ ÇáÍãÇÖ ÇáÚÖæíÉ Ýí ÇáÈæá (Urine Organic Acid),æ ÞíÇÓ ãÓÊæíÇÊ ÇáÅäÒíãÇÊ Ýí ÎáÇíÇ ÇáÌáÏ(Fibroblasts) .ßãÇ íãßä ÍÇáíÇ ÇáßÔÝ Úä ÇáÚÏíÏ ãä åÐå ÇáãÑÇÖ Úä ØÑíÞ ÌåÇÒ ÞíÇÓ ÇáØíÝ ÇáßÊáÉ ÇáãÊæÇáí (Tandem MS) ááÓÝ áÇ íæÌÏ ÚáÇÌ ÔÇÝí ááãÑÖ æ áÐáß ÝÇä ÇáÚáÇÌ íÚÊãÏ Úáì ÚÏÉ ãÍÇæÑ.íÚÊãÏ Úáíå ÚáÇÌ åÐå ÇáãÑÇÖ åæ ÚÏã ÇáÕæã Úä ÇáØÚÇã áßËÑ ãä 8 Åáì 12 ÓÇÚÉ(æ åí ÇáãÏÉ ÇáÊí íÍÊÇÌåÇ ÇáØÝá æ ÇáÈÇáÛ ááäæã)æ áßä ÝÇä ÇáØÈÇÁ íäÕÍæä ä íÊäÇæá ÇáØÝá ÇáÞá ãä ÓäÉ ãä ÇáÚãÑ ÑÖÚå ãä ÇáÍáíÈ æ æ ÌÈÉ ÛÐÇÆíÉ ßá ÓÇÚÊíä Åáì ÑÈÚ ÓÇÚÇÊ.æ ÇáßÈÑ ãä åÐÇ ÇáÓä ÝÅäåã Ýí ÇáÚÇÏÉ íßáæä Úáì ØæÇá Çáíæã ßá 3 Åáì 6 ÓÇÚÇÊ ÍÓÈ ÇáÙÑæÝ.åÐÇ ÅÐÇ ßÇäæÇ ÈÕÍÉ ÌíÏÉ ãÇ ÅÐÇ ÕíÈæÇ ÈæÚßÉ ÕÍíÉ ßÇáÒßÇã ãËáÇ ÝÇä ÚáíåÇ Åä íÊäÇæá ÇáØÚÇã ÈÔßá ÇßÈÑ æ Ýí ÝÊÑÇÊ ÞÕíÑÉ.ãÇ ÅÐÇ ÍÏË ãÇ áÇ íÍãÏ ÚÞÈÇå æ ÕíÈ ÇáØÝá æ ÇáÈÇáÛ ÈáÇÒãÉ ÇáÍÇÏÉ(metabolic crisis) ÎÇÕÉ ÚäÏãÇ íßæä åäÇß ÞÆ æ ÅÓåÇá íÕÚÈ Úáì ÇáãÑíÖ ÊäÇæá ÇáØÚÇã ÇáßÇÝí ÝÇäå ãä ÇáÖÑæÑí ÇáÐåÇÈ Åáì ÇáãÓÊÔÝì ÈÔßá ÓÑíÚ áßí íÈÏÇ ÈÅÚØÇÁ ãÍáæá ÇáÌáæßæÒ(a 10% glucose) ÇáãÑßÒ Úä ØÑíÞ ÇáæÑíÏ áßí íãäÚ ÊÏåæÑ ÍÇáÉ ÇáãÑíÖ. ãÇ ÅÐÇ ßÇä ÍÏË ÇäÎÝÇÖ áãÓÊæì ÇáÓßÑ ÈÔß ãÊßÑÑ ãÚ ßä ÇáØÝá íÊäÇæá æÌÈÇÊ ÛÐÇÆíÉ ãÊßÑÑÉ ÝÇäå íäÕÍ ÈÊäÇæá ãáÚÞÊíä Åáì ËáÇË ãáÇÚÞ ãä ÇáÐÑÉ ÇáãØÍæäÉ(ÇáäÔÇÁ) ÈÚÏ ÅÖÇÝÉ ÅáíåÇ ÈÇáãÇÁ æ í ÓÇÆá ÎÑ) æ ÅÚØÇÆå Ç ááØÝá ÎÇÕÉ ÞÈá Çáäæã ÍíË ä ÇáÐÑÉ ÇáÛíÑ ãØÈæÎÉ ÊÊÍáá ÈÈØÁ Ýí ÇáãÚÇÁ ÝÊßæä ãÕÏÑ ãÓÊãÑ ááÓßÑ æ ÇáØÇÞÉ..ÞÏ íÕÝ áß ÇáØÈíÈ ÈÚÖ äæÇÚ ãä ÇáãæÇÏ ÇáÛÐÇÆíÉ ÇáÎÑì ÇáÊí ÞÏ ÊÝíÏ Çæ íÕÝ áå ÏæÇÁ ÇáßÇÑäÊíä (L-carnitine) æ ÇáÐí ÞÏ íäÎÝÖ ãÓÊæÇå Ýí Ïã ÇáãÕÇÈíä ÈãÑÇÖ ßÓÏÉ ÇáÏåæä.æ ÈÔßá ÚÇã ääÕÍß ÏÇÆãÇ ÇáãÊÇÈÚÉ ãÚ ÇáØÈíÈ æ ÚÏ ÇáÊØÈÈ æ ÊÌÑÈÉ Åáì ÊÍÊ ÅÔÑÇÝ ØÈí.

42. Fatty Acid Oxidation Disorders disorders screened for by pediatrix screening. fatty Acid oxidation disorders.2, 4Dienoyl-CoA Reductase Deficiency 3-Hydroxy Long Chain Acyl-CoA http://www.pediatrix.com/body_screening_menu.cfm?id=1550

43. Fatty Acid Oxidation Diseases fatty acid oxidation disorders, fatty acid oxidation defects, fatty acidbetaoxidation deficiency. Printable version. The oxidation of fatty acids is an http://www.humpath.com/article.php3?id_article=694

44. UMDF Resource Map fatty Acid oxidation disorders (Betaoxidation,LCAD,LCHAD,MAD/GA-II,MCAD,SCAD).The FOD (fatty acid oxidation Disorder) Network On-line Newsletter http://www.umdf.org/resources/index.asp

45. The Hospital For Sick Children - Metabolism Research Staff Profile Neurometabolic disease, fatty acid oxidation disorders. Brief Biography. Dr.Tein is curently an Associate Professor of Paediatrics at the University of http://www.sickkids.on.ca/research/custom/profiles/tein.asp

46. FAO 6th International Congress On Fatty Acid Oxidation Mitochondrial fatty Acid oxidation (FAO) and its enzymology (14.1016.10 hr) M. Schiff, Neonatal long-chain fatty acid (LCFA) oxidation disorders and http://www.iem-amc.com/program.php

47. ARUP Supplemental Newborn Screening fatty acid oxidation disorders occur when one of these enzymes is missing. The following fatty acid oxidation disorders are potentially detected by the http://www.aruplab.com/home/pediatric_testing/sns_faqs.jsp

48. In-Vitro Probe For Defects Of Fatty Acid Oxidation disorders of fatty acid oxidation that can be diagnosed include. *Shortchainacyl-CoA dehydrogenase (SCAD) deficiency; Medium-chain acyl-CoA dehydrogenase http://www.duke.edu/~mdfeezor/dukemedicalgenetics/invitroprobe.htm

49. Health Professionals Guide To Newborn Screening: Fatty Acid Oxidation Disorders fatty Acid oxidation disorders (FOD) are a class of inborn errors of metabolismwhere there is an enzyme defect in the fatty acid metabolic pathway (use of http://www.slh.wisc.edu/newborn/guide/fatty_acid_oxidation.php

WSLH Newborn Guide Fatty Acid Oxidation ... Advisory Committee Health Professionals Guide to Newborn Screening: Newborn Screening Disorders Fatty Acid Oxidation Disorders Fatty Acid Oxidation Disorders (FOD) are a class of inborn errors of metabolism where there is an enzyme defect in the fatty acid metabolic pathway (use of dietary and stored fat). Clinical symptoms of FOD disorders include hypotonia, lethargy, and vomiting; the hypoglycemia can lead to coma, encephalopathy, hepatic failure, or death. Analyte Measured: Acylcarnitine profiling by Tandem Mass Spectrometry Disorders Reported, Reporting Ranges and Prevalence: Disorder Abbrev. Abnormal Acylcarnitine (s) uM Prevalence (estimated) Medium Chain Acyl-CoA Dehydrogenase Deficiency MCAD Long Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency LCHAD Unknown Trifunctional Protein Deficiency TFP Unknown Very Long Chain Acyl-CoA Dehydrogenase Deficiency VLCAD Short Chain Acyl-CoA Dehydrogenase Deficiency SCAD Carnitine Palmitoyltransferase Deficiency Type II CPT-II Glutaryl CoA Dehydrogenase Deficiency Type II (Glutaric Acidemia Type II)

50. Wisconsin Newborn Screening Laboratory: March 2000 Newsletter: No. 44 Expansion fatty Acid oxidation and Organic Acidemia disorders. fatty Acid oxidationdisorders (FOD) are a class of inborn errors of matabolism where there is an http://www.slh.wisc.edu/newborn/newsletters/2000/news0300.php

WSLH Newborn Newsletters Newborn Screening Home ... Advisory Committee Wisconsin Newborn Screening Laboratory This newsletter is to announce that on April 3rd, 2000 , the newborn screening laboratory will begin reporting results for 14 Fatty Acid Oxidation and Organic Acidemia disorders. This will bring the number of disorders screened for in Wisconsin to 21. Topics included in this newsletter are: a brief description of Fatty Acid Oxidation and Organic Acidemia disorders, how this group of disorders meet the Wisconsin criteria for screening, the technology used to detect these disorders, and the reporting scheme. Fatty Acid Oxidation and Organic Acidemia Disorders Fatty Acid Oxidation Disorders (FOD) are a class of inborn errors of matabolism where there is an enzyme defect in the fatty acid metabolic pathway which inhibits the body's ability to utilize stored fat. Clinical symptoms of FOD inclue hypotonia, lethargy, and vomiting; the hypoglycemia can lead to coma, encephalopathy, hepatic failure, or death. The following table lists those FOD that will be detected and reported. Fatty Acid Oxidation Disorders Abbreviation Prevalence (est) Medium Chain Acyl-CoA Dehydrogenase Deficiency MCAD 3-Hydroxyacyl CoA Dehydrogenase Deficiency LCHAD Very Long Chain Acyl-CoA Dehydrogenase Deficiency VLCAD Unknown Short Chain Acyl-CoA Dehydrogenase Deficiency SCAD

51. Contribution Of Selected Metabolic Diseases To Early Childhood Deaths --- Virgin †Tandem MS can identify selected disorders of fatty acid oxidation and amino acidmetabolism in dried postmortem blood samples (3). http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5229a1.htm

Contribution of Selected Metabolic Diseases to Early Childhood Deaths - Virginia, 19962001 ). Sudden, unexplained deaths also occur among children aged 1 year; however, the number of these deaths is not well documented. Certain cases of SIDS and sudden unexplained death beyond infancy might be attributable to complications of unrecognized metabolic diseases ( ). Tandem mass spectrometry (tandem MS) can be used to screen for several of these disorders ( ). Despite the low prevalence of these diseases ( ), newborn screening for these disorders has been found to compare favorably with the cost of other screening programs ( ). However, the contribution of these diseases to early childhood deaths is not well understood. To determine the proportion of sudden, unexpected early childhood deaths associated with selected metabolic diseases, CDC, the Office of the Chief Medical Examiner (ME) in Virginia, and a private laboratory conducted a population-based study. This report summarizes the results of the study, which indicate that 1% of children had a positive postmortem metabolic screen using tandem MS. Of the eight children with positive screening tests, seven might have had improved outcomes had they been identified and treated during the newborn period. The use of tandem MS in newborn screening programs could offer an opportunity to prevent early childhood mortality. The Virginia ME's records, including available autopsy reports, were reviewed for children who died before age 3 years during 19962001. In Virginia, the deaths of all children who die before age 18 months and whose death is attributed to SIDS, who die suddenly when in apparent good health, or who die when not under the care of a physician must be examined by the ME (

52. Cardiomyopathies disorders of fatty Acid metabolism General features. fatty Acid metabolism Function Catalyze initial reaction in ßoxidation of fatty acids; Hepatic http://www.neuro.wustl.edu/neuromuscular/msys/cardiac2.htm

Front Search Index Links ... Patient Info CARDIOMYOPATHIES: Genetic Dilated cardiomyopathy Fatty acid metabolism disorders Hypertrophic cardiomyopathy Long Q-T syndromes ... Right ventricular dilated (ARVD) cardiomyopathy Hypertrophic cardiomyopathy General Sarcomere proteins Other cardiac proteins General Hypertrophic cardiomyopathy: Mechanisms ? Related to inefficiency of ATP utilization Reduced ATP: Interferes with Ca reuptake Disorders produced by mutations in Sarcomere contractile proteins Cardiac troponin I Cardiac troponin T2 Cardiac myosin binding protein-C Myosin light chain ATP generation systems Friedreichs Mitochondrial VLCAD Other Titin External link: Gene mutation data base Hypertrophic cardiomyopathy: Disorders of sarcomere proteins myosin heavy chain l Chromosome 14q11.2-q13; Dominant Genetics Other MYH7 mutations cause Hyaline body myopathy Hypertrophic cardiomyopathy with cores Distal myopathy (MPD1) Clinical High QT variability: Especially with Arg403Gln mutation Labile ventricular repolarization Higher risk of sudden death from ventricular arrhythmias than other CMH Degree of cardiac hypertrophy correlates with sudden death risk Cardiac troponin T2 l Chromosome 1q32; Dominant

53. Fatty Acid Oxidation fatty acidCoA in mitochondria is substrate for ß-oxidation. fatty ACID oxidation.See fatty acid oxidation disorders http://www.neuro.wustl.edu/neuromuscular/pathol/diagrams/carnitine.htm

FATTY ACID TRANSPORT From MW King Fatty acids are activated in cytoplasm to Acyl CoA Acyl CoA transport through the mitochondrial membranes Via acyl carnitine intermediate CPT I enzyme in outer mitochondrial membrane CPT II enzyme in inner mitochondrial membrane FATTY ACID OXIDATION See: Fatty acid oxidation disorders Return to Mitochondrial pathways Return to Carnitine disorders Return to Neuromuscular Home Page

54. UCHSC Expanded Newborn Screening - Info For Health Care Professionals fatty Acid oxidation disorders *. Carnitine/Acylcarnitine Translocase The screen for some fatty acid oxidation organic acid disorders is less http://www.uchsc.edu/newbornscreening/proinfo4.htm

Main Page Getting the Test Disorders Detected A Parent's Guide / FAQ ... Información En Español Disorders Reliably Detected in Newborns by MS/MS Technology View or print this document in Adobe PDF format. Amino Acid Disorders Argininosuccinic Aciduria (ASA Lyase Deficiency) Citrullinemia (ASA Synthetase Deficiency) Homocystinuria Hypermethioninemias Maple Syrup Urine Disease (MSUD) Phenylketonuria (PKU) and other hyperphenylalaninemias Tyrosinemias Fatty Acid Oxidation Disorders * Carnitine/Acylcarnitine Translocase Deficiency 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD) Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Acidemia-Type II) Neonatal Carnitine Palmitoyl Transferase Deficiency-Type II (CPT-II) Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) Trifunctional Protein Deficiency (TFP Deficiency) Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) Organic Acid Disorders * 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG) Glutaric Acidemia-Type I (GA I) Isovaleric Acidemia (IVA) 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency) 3-Methylglutaconyl-CoA Hydratase Deficiency Methylmalonic Acidemias (MMA) Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Deficiency) Propionic Acidemia (PA) Multiple-CoA Carboxylase Deficiency View or print this document in Adobe PDF format.

55. The Association Between Acute Fatty Liver Of Pregnancy And Fatty Acid Oxidation in molecular diagnostic procedures provide evidence of a genetic basis forthis condition and a link to offspring disorders in fatty acid oxidation. http://jognn.awhonn.org/cgi/content/abstract/34/1/87

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Reprints and Permissions PubMed PubMed Citation Articles by Jamerson, P. A. JOGNN AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses DOI: 10.1177/0884217504272800 The Association Between Acute Fatty Liver of Pregnancy and Fatty Acid Oxidation Disorders Patricia A. Jamerson Acute fatty liver of pregnancy is a relatively rare but potentially fatal liver disorder of late pregnancy. Recent advances in molecular diagnostic procedures provide evidence of a genetic basis for this condition and a link to offspring disorders in fatty acid oxidation. This relationship implies the need for genetic testing and follow-up of at-risk women and their neonates. Keywords: HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS

56. JOGNN -- Sign In Page A fetal fattyacid oxidation disorder as a cause of liver disease in pregnant Mitochondrial fatty acid oxidation disorders. In CR Scriver, AL Beaudet, http://jognn.awhonn.org/cgi/content/full/34/1/87

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Journal of Obstetric, Gynecologic, and Neonatal Nursing Online. Full Text The Association Between Acute Fatty Liver of Pregnancy and Fatty Acid Oxidation... Jamerson J Obstet Gynecol Neonatal Nurs. This Article Abstract Full Text (PDF) Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Reprints and Permissions PubMed PubMed Citation Articles by Jamerson, P. A. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$25.00 Pay for Admission - You may access all content in Journal of Obstetric, Gynecologic, and Neonatal Nursing Online (from the computer you are currently using) for 24 hours for US$75.

57. Incidence And Short-Term Outcome Of Children With Symptomatic Presentation Of Or Key Words organic acid disorders • fatty acid oxidation disorders • epidemiology Abbreviations OAD, organic acid disorder • FAOD, fatty acid oxidation http://pediatrics.aappublications.org/cgi/content/abstract/110/6/1204

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager Search for citing articles in: ISI Web of Science (2) PubMed PubMed Citation Articles by Klose, D. A. Articles by Hoffmann, G. F. Related Collections PEDIATRICS Vol. 110 No. 6 December 2002, pp. 1204-1211 Incidence and Short-Term Outcome of Children With Symptomatic Presentation of Organic Acid and Fatty Acid Oxidation Disorders in Germany Daniela A. Klose, MD Beate Heinrich, MA Viola Prietsch, MD Ertan Mayatepek, MD and Georg F. Hoffmann, MD Institute of Social Pediatrics and Adolescent Medicine, Ludwig-Maximilians-University of Munich, Germany Objective. To determine the incidence of symptomatic children with inherited organic acid disorders (OADs) and fatty acid oxidation disorders (FAODs) in Germany. Methods.

58. Journal Of Pediatric Gastroenterology And Nutrition - Fulltext: Volume 31(4) Oct Improving the Outcome for fatty Acid oxidation disorders In all fatty acidoxidation disorders, fasting or illness can lead to acute encephalopathy, http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200010000-00007.htm

59. SHS North America -- DC Conference A Symposium on Phenylketonuria and fatty Acid oxidation disorders 230,Dietary Management of fatty Acid oxidation Disorder A low fat diet? http://www.shsna.com/pages/dc_conference.htm

Home About Us Products Ordering ... Contact Us What's New What's New News Archives Conferences Conference Archives Metabolic Conferences 2000 A Symposium on Phenylketonuria and Fatty Acid Oxidation Disorders April 7, 2000 The Latham Hotel, Washington, D.C. SHS North America is very pleased to invite you to the first symposium in a series of conferences designed for professionals interested in the dietary management of metabolic disorders. Each symposium will focus on a different topic and highlight current issues in metabolic disorders. Please register early since space is limited and participants are accepted on a first come first serve basis. For registration information, please contact SHS North America at Morning Session: PKU Registration and Breakfast Welcome and Chairperson’s Introduction Harvey Levy, M.D.; Children’s Hospital Boston

60. Obstetrical & Gynecological Survey - UserLogin A Fetal fattyAcid oxidation Disorder as a Cause of Liver Disease in Pregnant Fetal fatty Acid oxidation disorders, Their Effect on Maternal Health and http://www.obgynsurvey.com/pt/re/obgynsurv/fulltext.00006254-199911000-00002.htm

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