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
Extractions: 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.
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
Extractions: Related links of interest: 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.
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
Extractions: 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.
Extractions: 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.
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
Extractions: 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 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.
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
Extractions: Through Tandem Mass Spectrometry 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. 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.
Extractions: 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
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 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
Extractions: 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.
Extractions: 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).
Extractions: 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.
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
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
Extractions: General Medical ... Submit a Resource General Medical 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
Extractions: 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 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
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
Extractions: 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.
Extractions: 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. 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.
Extractions: (advertisement) 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 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.
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
Extractions: 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
