41. Health Professionals Guide To Newborn Screening: Fatty Acid Oxidation Disorders General information on fatty acid oxidation. Newborn Screening disorders. fatty Acid oxidation disorders. fatty Acid oxidation disorders (FOD) are a class of an enzyme defect in the fatty acid metabolic pathway (use of dietary 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 Very Long Chain Acyl-CoA Dehydrogenase Deficiency VLCAD Unknown Short Chain Acyl-CoA Dehydrogenase Deficiency SCAD Carnitine Palmitoyltransferase Deficiency Type II CPT-II Unknown Glutaric Acidemia Type II GA-II 2,4 Dienoyl-CoA Reductase Deficiency

42. Health, Conditions And Diseases, Genetic Disorders: Fatty Oxidation fatty acid oxidation disorders result from deficiency of one of the enzymes. fattyacid oxidation disorders result from deficiency of one of the enzymes. http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty_Ox

Top Health Conditions and Diseases Genetic Disorders ... Fatty Oxidation Related links of interest: Health:Conditions and Diseases:Nutrition and Metabolism Disorders Fatty Oxidation Disorders - Informational site provides details on newborn screening, on numerous diseases, medical information and support resources such as a newsletter and email List. Health Care Professionals' Guide to Newborn Screening - General information on fatty acid oxidation. THCME Medical Biochemistry Page: Fatty Acid Oxidation - An introduction, mobilization of fat stores, oxidation reactions, alternative oxidation pathways, regulation of fatty acid metabolism, clinical aspects of fatty acid metabolism, ketogenesis, regulation of ketogenesis, and clinical significance of ketogenesis. The CaF Directory - A description of fatty acid oxidation disorders and further resources. Fatty acids are one of the body's fuels: oxidation is the process by which they are broken down to release energy. This process has many steps, each catalysed by a different enzyme. Fatty acid oxidation disorders result from deficiency of one of the enzymes. Help build the largest human-edited directory on the web.

43. Fatty Acid Oxidation Disorders fatty Acid oxidation disorders, Galactosemia, Babies born with fatty acidoxidation disorders are unable to break down stored fats into energy. http://www.uhl.uiowa.edu/services/mychildshealth/newborn/disorders/fatty.html

Testing and Services News Room Contact Us About UHL ... Site Map Search Quick Links Well Water Today's Air Quality Disease / Infection / Illness Info Environmental Info Kits / Quotes / Forms Results Interpretation Laboratory Certification Terrorism and Emergency Response Amino Acid Disorders Biotinidase Deficiency Congenital Adrenal Hyperplasia Fatty Acid Oxidation Disorders ... Disorders Fatty Acid Oxidation Disorders Babies born with fatty acid oxidation disorders are unable to break down stored fats into energy. Energy from fat keeps the body running whenever it runs out of its main source: glucose. Prolonged fasting (i.e., going for long periods without eating, such as during an illness) can lead to severe, life-threatening symptoms or even death. Treatment includes dietary management and avoiding long periods without eating. MCAD (medium chain acyl-coA dehydrogenase) deficiency is a fatty acid oxidation disorder. Web Master Site Map

44. NEJM -- A Fetal Fatty-Acid Oxidation Disorder As A Cause Of Liver Disease In Pre Human placenta metabolizes fatty acids implications for fetal fatty acidoxidation disorders and maternal liver diseases. Am. J. Physiol. http://content.nejm.org/cgi/content/short/340/22/1723

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 340:1723-1731 June 3, 1999 Number 22 Next A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women Jamal A. Ibdah, M.D., Ph.D., Michael J. Bennett, Ph.D., Piero Rinaldo, M.D., Ph.D., Yiwen Zhao, B.S., Beverly Gibson, B.S., Harold F. Sims, B.A., and Arnold W. Strauss, M.D. Full Text PDF Add to Personal Archive Add to Citation Manager ... Chapters at Harrison's ABSTRACT Background Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a deficiency of long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase. This enzyme resides in the mitochondrial trifunctional protein, which also contains the active site of long-chain 2,3-enoyl-CoA hydratase and long-chain 3-ketoacyl-CoA thiolase. We undertook this study to determine the relation between mutations in the trifunctional protein in infants with defects in fatty-acid oxidation and acute liver disease during pregnancy in their mothers.

45. NEJM -- Sign In A Fetal fattyAcid oxidation Disorder as a Cause of Liver Disease in PregnantWomen. Clinical and biochemical features of fatty acid oxidation disorders. http://content.nejm.org/cgi/content/full/340/22/1723

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Access to this article requires sign-in. Subscribers have access to all content. Other registered users have access to research articles six months old and older. If you're a registered user or an activated subscriber SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access If you'd like to purchase a subscription to NEJM If you're not a subscriber and want FREE limited access... ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.

46. Newborn Screening Frequently Asked Questions MS/MS screening is utilized to detect amino acid, organic acid and fatty acid oxidationdisorders. fatty acid oxidation disorders, Analytes (Acylcarnitines)*. http://www.idph.state.il.us/HealthWellness/msmsfaq.htm

Expanded Newborn Screening Through Tandem Mass Spectrometry What is newborn screening? Newborn screening involves laboratory testing of all newborn infants for certain genetic/metabolic or endocrine disorders of body chemistry. In addition to laboratory capabilities, necessary components of a successful newborn screening program include tracking and referral of at-risk infants until further diagnostic testing is performed and long- term follow-up of children diagnosed with a disorder. These tests should be considered screening tests only. Screening can indicate the possibility that an infant may be at risk for a disorder included in the testing panel. Additional diagnostic tests are necessary to determine if the infant with an abnormal test actually has a disorder. What are the limitations? What is expanded newborn screening? In addition to providing screening for the six legacy newborn screening disorders (biotinidase deficiency, congenital adrenal hyperplasia, congenital hypothyroidism, galactosemia, phenylketonuria and sickle cell disease and other hemoglobinopathies), on July 1, 2002, the Illinois Department of Public Health (IDPH) Division of Laboratories implemented an additional laboratory technology for screening the dried blood filter paper specimens collected from newborn infants. This technology, tandem mass spectrometry or MS/MS, utilizes special instruments to analyze the dried blood spot specimens for specific metabolites that are produced during the metabolism of proteins and fats. MS/MS screening is utilized to detect amino acid, organic acid and fatty acid oxidation disorders. This technology supplements, rather than replaces existing laboratory technologies such as fluorometric assay, high performance liquid chromatography (HPLC) and colorimetric analysis.

47. Index L: Contact A Family - For Families With Disabled Children: Information On LCA see Leber s Congenital Amaurosis LCAD see fatty Acid oxidation disorders LCHADsee fatty Acid oxidation disorders LEMS see Myasthenia Gravis and other http://www.cafamily.org.uk/Idx/l.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. LCA see Leber's Congenital Amaurosis LCAD see Fatty Acid Oxidation Disorders LCHAD see Fatty Acid Oxidation Disorders LEMS see Myasthenia Gravis and other Myasthenic syndromes LIMD see Mitochondrial Cytopathies and related disorders Lactic Acidosis see Metabolic diseases and see Mitochondrial Cytopathies and related disorders Lafora Body disease see Metabolic diseases Lambert-Eaton Myasthenia syndrome see Myasthenia Gravis and other Myasthenic syndromes Lamellar Ichthyosis see Ichthyosis Landau-Kleffner syndrome Landouzy-Dejerine see Facioscapulohumeral Muscular Dystrophy Landry's Ascending Paralysis see Langer-Giedion syndrome Langerhans Cell Histiocytosis see Histiocytosis Language Disorder see Speech and Language Impairment Larsen syndrome Laryngeal Dystonia see Dystonia Laurence-Moon-Bardet-Biedl see Bardet-Biedl syndrome Laurence-Moon-Biedl see Bardet-Biedl syndrome Learning Disability Learning Problem see Dyslexia Leber's Amaurosis see Leber's Congenital Amaurosis Leber's Congenital Amaurosis Leber's Optic Atrophy see

48. Cardiomyopathies fatty Acid oxidation disorders AcylCoA dehydrogenase deficiencies Acyl-CoA dehydrogenase,short-chain (SCAD) Acyl-CoA dehydrogenase, medium-chain (MCAD) Acyl 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 ... Other 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 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

49. Fatty Acid Oxidation See fatty acid oxidation disorders Return to Mitochondrial pathways Returnto Carnitine disorders Return to Neuromuscular Home Page 2/3/2001 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

50. Fatty Acid Oxidation The majority of clinical problems related to fatty acid metabolism are associatedwith processes of oxidation. These disorders fall into four main groups 1 http://www.indstate.edu/thcme/mwking/fatty-acid-oxidation.html

Introduction Mobilization of Fat Stores Oxidation Reactions Alternative Oxidation Pathways ... Return to Medical Biochemistry Page Introduction Utilization of dietary lipids requires that they first be absorbed through the intestine. As these molecules are oils they would be essentially insoluble in the aqueous intestinal environment. Solubilization (emulsification) of dietary lipid is accomplished via bile salts that are synthesized in the liver and secreted from the gallbladder. The emulsified fats can then be degraded by pancreatic lipases ( lipase and phospholipase A ). These enzymes, secreted into the intestine from the pancreas, generate free fatty acids and a mixtures of mono- and diacylglycerols from dietary triacylglycerols. Pancreatic lipase degrades triacylglycerols at the 1 and 3 positions sequentially to generate 1,2-diacylglycerols and 2-acylglycerols. Phospholipids are degraded at the 2 position by pancreatic phospholipase A releasing a free fatty acid and the lysophospholipid. Following absorption of the products of pancreatic lipase by the intestinal mucosal cells, the resynthesis of triacylglycerols occurs. The triacylglycerols are then solubilized in lipoprotein complexes (complexes of lipid and protein) called chylomicrons . A chylomicron contains lipid droplets surrounded by the more polar lipids and finally a layer of proteins. Triacylglycerols synthesized in the liver are packaged into VLDLs and released into the blood directly. Chylomicrons from the intestine are then released into the blood via the lymph system for delivery to the various tissues for storage or production of energy through oxidation.

51. Nutrition Research Newsletter: Management Of Fatty Acid Oxidation Disorders - Ge You are Here Articles Nutrition Research Newsletter Jan, 2003 Article. Managementof fatty acid oxidation disorders. (Genetic Disease and Nutrition). http://www.findarticles.com/cf_0/m0887/1_22/97296512/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Nutrition Research Newsletter Jan, 2003 Content provided in partnership with Print friendly Tell a friend Find subscription deals Management of fatty acid oxidation disorders - Genetic Disease and Nutrition Nutrition Research Newsletter Jan, 2003 Fatty acid oxidation disorders are defined by a defect in the fatty acid oxidation pathway. An inability to mobilize fatty acids for energy and a restriction in the breakdown of fats of specific lengths are hallmarks of these genetic disorders. Standard treatment of fatty acid oxidation disorders is by way of medical nutrition therapy. However, fatty acid oxidation disorders encompass a large and diverse number of disorders and treatment and management pose a unique challenge to metabolic dietitians. With an increasing number of affected individuals being identified, it is essential that nutrition intervention be initiated as soon as a diagnosis is established. A recent study by two researchers from Emory University surveyed metabolic dietitians across the United States to determine nutritional strategies currently employed for the treatment of fatty acid oxidation disorders. A survey was sent to all members of the PNO-METAB-L listserv, which includes metabolic dietitians throughout the United States. Questions were asked regarding nutrient composition of total diet, use of specialized formulas or lipid preparations including dose and frequency and parameters used to monitor dietary management and disease progression. The same questions were asked for each of three disease categories: medium-chain Acyl-CoA dehydrogenase deficiency (MCAD); very-long-chain Acyl-CoA dehydrogenase deficiency (VLCAD); and a third category that combined long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), long-chain Acyl-CoA dehydrogenase deficiency (LCAD) and trifunctional protein deficiency (TFP).

52. Journal Of The American Dietetic Association: Management Of Fatty Acid Oxidation Management of fatty acid oxidation disorders a survey of current treatmentstrategies. (Research and Professional Briefs). Journal http://www.findarticles.com/cf_dls/m0822/12_102/95579385/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Journal of the American Dietetic Association Dec, 2002 Content provided in partnership with Print friendly Tell a friend Find subscription deals Management of fatty acid oxidation disorders: a survey of current treatment strategies - Research and Professional Briefs Journal of the American Dietetic Association Dec, 2002 by Java O. Solis Rani H. Singh Fatty acid oxidation disorders are defined by a defect in the fatty acid oxidation pathway. An inability to mobilize fatty acids for energy and a restriction in the breakdown of fats of specific lengths are hallmarks of these genetic disorders (1). Standard treatment of fatty acid oxidation disorders is by way of medical nutrition therapy (23). However, fatty acid oxidation disorders encompass a large and diverse number of disorders, and treatment and management pose a unique challenge to metabolic dietitians. Fatty acid oxidation disorders are under consideration to be added to expanded newborn screening panels for genetic disorders. With an increasing numbers of affected individuals being identified (4), it is essential that nutrition intervention be initiated as soon as a diagnosis is established. The purpose of this study was to survey metabolic dietitians across the United States to determine nutritional strategies currently employed for the treatment of fatty acid oxidation disorders. Our results indicate that there are diverse approaches used to manage fatty acid oxidation disorders; a lack of evidence supporting the protocols in use; and a need for comprehensive, clinical research studies to determine optimal patient care.

53. Genetic Disorders, Fatty Oxidation Category Home Health Conditions and Diseases Genetic disorders fatty oxidation. * Site Title · The name of the site. (eg http://www.iseekhealth.com/directory/index.php?method=show_link_exchange&directo

54. Genetic Disorders, Fatty Oxidation » Submit your URL to iSeekHealth.com. iSeekHealth Website SubmissionForms Take advantage of iSeekhealth s low cost, onetime website http://www.iseekhealth.com/index.php?method=show_submit_site&directory_id=1583

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

Resources by Area Resources Click below to find resources for a specific area Click below to search all resources On-Line Support UMDF Chapters Support Groups General Medical ... Submit a Resource General Medical Action Bioscience American Medical Association Child-Neuro - Pediatric neurology resources on the internet, including a news group, lots of good links. RxList - The Internet Drug Index Mitochondrial Related Organizations Athena Diagnostics - List of their testing services and an excellent source of information on mitochondrial diseases CDGS Family Network - Informative page about Carbohydrate-Deficient Glycoprotein Syndrome Center for Inherited Disorders of Energy Metabolism (CIDEM) - Case Western Reserve University CERI : Mitochondrial Nutrition, Aging and Cognition - Very informative overview of mitochondrial function International Coenzyme Q10 Association Jonathan Wilson-Fuller Foundation Karolinska Institute - Nutritional and Metabolic Diseases Mitochondria Interest Group Mitochondrial Medicine Society Mitochondrial and Metabolic Disease Center - UCSD (formerly the Leigh's Center for Children) MITOCHONDRIAL and METABOLIC DISORDERS - A Primary Physician's Guide Mitochondria Research Society - A nonprofit international organization of scientists and physicians

56. Deficiency Of Short-chain Acyl-CoA Dehydrogenase (ACADS), Medium-chain Acyl-CoA of being unable to degrade fatty acids are severe. There are a number of human diseasesattributed to peroxisomal and mitochondrial betaoxidation disorders. http://www.icomm.ca/geneinfo/bod.htm

deficiency of short-chain acyl-CoA dehydrogenase (ACADS), medium-chain acyl-CoA dehydrogenase (ACADM), long-chain acyl-CoA dehydrogenase (ACADL), and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) Zellweger cerebro-hepato-renal syndrome, neonatal adrenoleukodystrophy (ALD) and infantile phytanic acid storage disease Peroxisomal beta-oxidation disorders Mitochondrial beta-oxidation disorders,Beta Oxidation Defects,BOD,LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Beta Oxidation Defects Disorder Subdivisions Mitochondrial beta-oxidation disorders Peroxisomal beta-oxidation disorders LCAD LCHAD MAD MCAD SCAD SCHAD VLCAD (as defined at http://cellwall.stanford.edu/thesis/thesis09.htm Defects of beta-oxidation in humans The consequences of being unable to degrade fatty acids are severe. There are a number of human diseases attributed to peroxisomal and mitochondrial beta-oxidation disorders Peroxisomal disorders can be classified into two broad categories: assembly disorders, affecting the biogenesis of peroxisomes, and

57. FATTY ACID OXIDATION DISORDERS – LCHAD, VLCAD fatty ACID oxidation disorders LCHAD, VLCAD. Several defects of betaoxidation pathways are known resulting clinically in a range http://www.shsweb.co.uk/metabolic/3132/products/FATTYACID.htm

FATTY ACID OXIDATION DISORDERS LCHAD, VLCAD Several defects of beta oxidation pathways are known resulting clinically in a range of symptoms including liver failure, cardiomyopathy, muscle weakness and life threatening coma when ill. Dietary management of LCHAD and VLCAD and disorders of carnitine transport, aims to limit long chain fat and to maximise carbohydrate with frequent feeding and avoidance of fasting. Medium chain fat can be included provided there is no defect in medium chain fatty acid oxidation. Monogen A powdered nutritionally complete low fat, whole whey protein feed containing 90% of fat as medium chain triglycerides (MCT) and a small amount of essential fatty acids, designed for use in LCAD deficiency where MCT is tolerated. It can also be used in other lipid and lymphatic disorders. Age Range Pack Size infants and children 400g can PRECAUTIONS Only intended for use by patients with Long Chain Fat Disorders Use under medical supervision Not for parenteral use

58. Medium-chain Acyl-CoA Dehydrogenase HuGE Factsheet Arch Dis Child 1998;7911619. Roe C, Coates P. Mitochondrial fatty Acidoxidation disorders. fatty Acid oxidation Disorder Network (mcad3). http://www.cdc.gov/genomics/hugenet/factsheets/FS_MCAD.htm

Your browser does not support script fact sheet MCAD Deficiency Medium-chain acyl-CoA dehydrogenase Sophia Wang, PhD print version HuGE Review Published May, 2000 MCAD Gene The gene for medium-chain acyl-CoA dehydrogenase (MCAD) is located at chromosome 1p31. MCAD is an enzyme responsible for the metabolism of medium chain fatty acids. Gene Variants Twenty-six MCAD gene variants have been reported. One of these gene variants, the K304E MCAD mutation, accounts for the majority of MCAD mutations identified to date. MCAD is an autosomal recessive disorder; therefore, individuals who are homozygous or compound heterozygous for an MCAD mutation may have abnormal protein product and subsequent inefficient enzymatic activity to metabolize medium-chain fatty acids. MCAD deficiency is therefore an inherited error of fatty acid metabolism. Prevalence of K304E K304E is reportedly found in 90% of all retrospectively identified MCAD deficient patients’ alleles; 81% of all MCAD deficient patients are homozygous, and 18% of MCAD deficient patients are compound heterozygous for K304E. Caucasians of Northern European descent exhibit the highest frequency of MCAD deficient genotypes. The carrier frequency of K304E among this group is estimated to be 1:40-100 and the homozygote frequency is 1:6,500-20,000. Clinical manifestation of MCAD Deficiency In general, MCAD-deficient patients are at risk for a combination of the following outcomes: hypoglycemia, vomiting, lethargy, encephalopathy, respiratory arrest, hepatomegaly, seizures, apnea, cardiac arrest, coma, and sudden death. Long-term outcomes may include developmental and behavioral disability, chronic muscle weakness, failure to thrive, cerebral palsy, and attention deficit disorder (ADD). However, differences in clinical disease specific to allelic variants (e.g., genotypic-phenotypic correlations) have not been documented.

59. EMedicine - Carnitine Deficiency : Article Excerpt By: Fernando Scaglia, MD In secondary carnitine deficiency, which is caused by other metabolic disorders(eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion http://www.emedicine.com/ped/byname/carnitine-deficiency.htm

(advertisement) Excerpt from Carnitine Deficiency Synonyms, Key Words, and Related Terms: CD, primary carnitine deficiency, myopathic carnitine deficiency, secondary carnitine deficiency, carnitine deficiency limited to the muscle, systemic carnitine deficiency, lipid-storage disease, lipid metabolism disorder, L-carnitine Please click here to view the full topic text: Carnitine Deficiency Background: Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and derived from meat and dairy products in the diet. It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. Carnitine binds acyl residues and helps in their elimination, decreasing the number of acyl residues conjugated with coenzyme A (CoA) and increasing the ratio between free and acylated CoA. Carnitine deficiency is a metabolic state in which carnitine concentrations in plasma and tissues are less than the levels required for normal function of the organism. Biologic effects of low carnitine levels may not be clinically significant until they reach less than 10-20% of normal. Carnitine deficiency may be primary or secondary. Pathophysiology: Primary carnitine deficiency is caused by a deficiency in the plasma membrane carnitine transporter, with urinary carnitine wasting causing systemic carnitine depletion. Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. Consequently, long-chain fatty acids are not available for beta-oxidation and energy production, and the production of ketone bodies (which are used by the brain) also is impaired.

60. In-Vitro Probe For Defects Of Fatty Acid Oxidation Van Hove, JLK Acylcarnitines in fibroblasts of patients with longchain 3-hydroxyacyl-CoAdehydrogenase deficiency and other fatty acid oxidation disorders. http://www.duke.edu/~mdfeezor/dukemedicalgenetics/invitroprobe.htm

In-Vitro Probe For Defects Of Fatty Acid Oxidation A. Description and clinical utility: Mitochondrial fatty acid beta-oxidation is mediated by a series of enzymes that catalyze the transfer (across mitochondrial membranes) and the degradation of long-chain fatty acids into acetyl-coenzyme A (coA) units, with transfer of electrons to the electron transport chain. Defects are known to occur in most of the enzymes that have thus far been characterized, and in most cases these defects cause the accumulation of abnormal acyl-coA intermediates that can be detected as acylcarnitines in the blood of affected patients (see "Acylcarnitine Profile"). In most cases, a presumptive diagnosis can be ascertained from the plasma or blood acylcarnitine profile, but there are some limitations with this in-vivo test. It is well established that the beta-oxidation system in the liver is normally quiescent until at least 4-6 hr into the fasting state, and thus abnormal metabolites might not reach detectable levels unless the patient is fasting or experiencing a clinical episode. When patients with certain defects of long-chain fatty acid oxidation become severely ill, the abnormalities can reflect multiple enzyme systems and lead to difficulties in interpretation. Also, certain drugs and dietary supplements can alter the acylcarnitine pattern and obscure a possible diagnosis. For these reasons, an in-vitro test was invented and developed in this laboratory. This test is based on the analysis of acylcarnitines that accumulate in the cells and media of fibroblast cultures exposed to long-chain fatty acid in the presence of excess L-carnitine (1,2). Under these controlled conditions, the patterns of disease profiles are consistent. The method is particularly well suited to the diagnosis of long-chain defects, which are the most difficult to diagnose using

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