The American Journal Of The Medical Sciences - UserLogin Genetic disorders in fatty acid oxidation are reviewed in the last three articles.Drs. Barger and Kelly describe an essential role for transcriptional http://www.amjmedsci.com/pt/re/ajms/fulltext.00000441-199907000-00001.htm
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Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Bonnet, D. Articles by Saudubray, J.-M. Related Collections Arrhythmias, clinical electrophysiology, drugs Pediatric and congenital heart disease, including cardiovascular surgery Circulation. Damien Bonnet, MD Delphine Martin, MD Pascale de Lonlay, MD Elizabeth Villain, MD Philippe Jouvet, MD Daniel Rabier, MD Jean-Marie Saudubray, MD Background of fatty acid oxidation vary according to the enzymatic defect. They may present as isolated cardiomyopathy, sudden death, progressive skeletal myopathy, or hepatic failure. Arrhythmia is an unusual presenting symptom of fatty acid oxidation deficiencies.
Extractions: 57/5_Part_2/78/R most recent correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by SHEKHAWAT, P. S. Articles by STRAUSS, A. W. Pediatric Research
Pediatric Research -- Sign In Page THE MITOCHONDRIAL fatty ACID ßoxidation disorders More than 20 defects in fatty Rinaldo P, Matern D, Bennett MJ 2002 fatty acid oxidation disorders. http://www.pedresearch.org/cgi/content/full/57/5_Part_2/78/R
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Newborn Bloodspot Screening Problems in getting energy from fats are called fatty Acid oxidation disorders.The 9 fatty acid oxidation disorders included in the Maryland Newborn http://www.fha.state.md.us/genetics/html/nbs_bloodspot.html
Extractions: Center for Cancer Surveillance and Control Council on Physical Fitness Genetics and Children Center for Maternal and Child Health Center for Preventive Health Services Child and Adolescent Health Health Promotion, Education Oral Health Deer's Head Center Western Maryland Center GENETICS HOME Newborn Screening Genetic Counseling Infant Hearing Screening ... Contact Us All babies born in Maryland, over 70,000 annually, are eligible for this service. We also accept specimens on babies born out of state to Maryland residents. There is a one time $42.00 laboratory charge per baby. This is billed to the hospital of birth. No baby is ever refused testing for inability to pay. The hospital is not charged for testing if the family is unable to pay. What is a disorder of body chemistry?
Newborn Bloodspot Disorders Screening (Some well known organic acidurias and fatty acid oxidation disorders are listed The fatty acid oxidation disorders included in the Maryland Newborn http://www.fha.state.md.us/genetics/html/newborn.html
Extractions: Center for Cancer Surveillance and Control Council on Physical Fitness Genetics and Children Center for Maternal and Child Health Center for Preventive Health Services Child and Adolescent Health Health Promotion, Education Oral Health Deer's Head Center Western Maryland Center GENETICS HOME Newborn Screening Genetic Counseling Infant Hearing Screening ... Contact Us Newborn Bloodspot Disorders Disorders Included in the Newborn Bloodspot Screening Program The Maryland Newborn Screening Program finds babies with any of 32 disorders: Biotinidase Deficiency * Homocystinuria PKU CAH ... Organic Acidurias (13) Note: Babies are also screened for Hearing Loss (Some well known organic acidurias and fatty acid oxidation disorders are listed separately as well as under the group heading.) Biotinidase Deficiency The body is unable to recycle the B vitamin called biotin. Biotin is needed to make a number of enzymes. Babies with this deficiency need more biotin than other babies. Treatment with extra biotin prevents the mental retardation and deafness, which would otherwise result. This disorder can be considered an organic aciduria. Approximately 1 in 60,000 U.S. babies has this problem.
Extractions: In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.The in vivo oxidation of fatty acids (FA) of different chain length was investigated in three patients with documented mitochondrial FA oxidation disorders: one patient with mild multiple acyl-CoA dehydrogenase deficiency ( MADM ), one with medium chain acyl-CoA dehydrogenase deficiency ( MCAD ), and one with carnitine palmitoyltransferase I deficiency ( CPT I
Legislative Information System Adds to the list of inherited disorders for which newborn testing is required a fatty acid oxidation disorder known as MCAD or MCADH, ie, mediumchain http://leg1.state.va.us/cgi-bin/legp504.exe?021 sum SB218S
Extractions: This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Roe, C. R. Articles by Brunengraber, H. J Clin Invest, July 2002, Volume 110, Number 2, 259-269 Charles R. Roe Lawrence Sweetman Diane S. Roe France David and Henri Brunengraber Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA Department of Nutrition, Case Western Reserve University, Cleveland, Ohio, USA Address correspondence to: Charles R. Roe, Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, Texas 75226, USA. Phone: (214) 820-4533; Fax: (214) 820-4853; E-mail: Received for publication February 20, 2002
Extractions: This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Roe, C. R. Articles by Brunengraber, H. J Clin Invest, July 2002, Volume 110, Number 2, 259-269 Charles R. Roe Lawrence Sweetman Diane S. Roe France David and Henri Brunengraber Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA Department of Nutrition, Case Western Reserve University, Cleveland, Ohio, USA Address correspondence to: Charles R. Roe, Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, Texas 75226, USA. Phone: (214) 820-4533; Fax: (214) 820-4853; E-mail: Received for publication February 20, 2002
Todd Richmond's Thesis - Defects Of Beta-oxidation In Humans The consequences of being unable to degrade fatty acids are severe. human diseases attributed to peroxisomal and mitochondrial betaoxidation disorders. http://cellwall.stanford.edu/thesis/thesis09.htm
Extractions: 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 single enzyme defects (Moser and Moser, 1996). Zellweger cerebro-hepato-renal syndrome, neonatal adrenoleukodystrophy (ALD) and infantile phytanic acid storage disease are examples of diseases characterized by a decreased number or absence of peroxisomes in liver and other tissues (Watkins et al., 1989; Brown et al., 1993). The clinical features of these disorders include dimorphic features, retinopathy, hypotonia, seizures, neuronal migration defects, liver disease and demyelination. Multiple biochemical abnormalities are observed as well, including the accumulation of very long chain fatty acids (VLCFA) (Moser et al., 1984). There are at least 10 disorders caused by the loss of a single peroxisomal enzyme (Moser and Moser, 1996). Deficiencies in beta-oxidation enzymes include X-linked adrenoleukodystrophy, and deficiencies of acyl-CoA oxidase, bifunctional enzyme, and peroxisomal thiolase. X-linked adrenoleukodystrophy is caused by the loss of a single bifunctional protein acting in the beta-oxidation pathway. This deficiency causes disease symptoms similar to Zellweger syndrome or neonatal ALD, both assembly disorders (Watkins et al., 1989). Peroxisomal bifunctional enzyme deficiency results in multiple biochemical abnormalities including elevated levels of very long chain fatty acid levels in both plasma and fibroblasts, impaired beta-oxidation in cultured fibroblasts, and abnormal bile acid metabolism (Watkins et al., 1989).
Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Wraige, E Articles by Robinson, P H Related Collections Other Neurology Ketonuria accompanying hypoglycaemia is conventionally thought to exclude fat oxidation defects. We describe a 2 year old girl with hypoglycaemic encephalopathy in whom a diagnosis of very long chain acyl CoA dehydrogenase deficiency was suggested on the basis of acylcarnitine analysis despite massive ketonuria.
Extractions: This Article Full Text (PDF) Submit a response Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Pourfarzam, M. Articles by Bartlett, K. M Pourfarzam, J Schaefer, DM Turnbull and K Bartlett Department of Child Health, Medical School, University of Newcastle upon Tyne, UK. We describe a method for the diagnosis of mitochondrial fatty acid oxidation disorders that is based on the analysis of acylcarnitine and acyl-coenzyme A (acyl-CoA) esters generated during fatty acid oxidation by permeabilized skin fibroblasts. This method requires only small amounts of cultured fibroblasts with minimal preparation, and no isolation of
Extractions: This Article Full Text (PDF) Submit a response Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Onkenhout, W. Articles by Poorthuis, B. J. W Onkenhout, V Venizelos, PF van der Poel, MP van den Heuvel and BJ Poorthuis Department of Pediatrics, University Hospital, Leiden, The Netherlands. The free fatty acid and total fatty acid profiles in plasma of nine patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, two with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and two with mild-type multiple acyl-CoA dehydrogenase (MAD-m) deficiency, were analyzed
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The Newborn Screening Disorders The newborn screen tests for these seven fatty acid oxidation disorders A baby with a fatty acid oxidation disorder must have regular medical care. http://www.dhfs.state.wi.us/DPH_BFCH/Newborn_Screen/NBSdisorders.htm
Extractions: Topics A-Z Reference Center Search Family Health Home ... Staff Contacts The Newborn Screening Disorders This page will describe the disorders tested for by the newborn screen. If you have additional questions about these disorders, please ask your health care provider or go to additional information Biotinidase Deficiency Congenital Adrenal Hyperplasia (CAH) ... Fatty Acid Oxidation Disorders Biotinidase Deficiency Back to top Congenital Adrenal Hyperplasia ( CAH) Back to top Congenital Hypothyroidism Back to top Cystic Fibrosis (CF) Cystic fibrosis causes thick mucus to collect in the lungs and intestines. Mucus prevents proper breathing and can cause poor digestion of food. Lung infections and digestive problems will need medical treatment. A baby with CF will need regular medical care and a good diet. Back to top Galactosemia A baby with this problem cannot digest the sugar galactose. If not treated, galactose will build up in the body causing damage to the eyes, liver and brain. Babies with galactosemia must not have foods containing galactose or lactose, including breast milk and some infant formulas. Treatment includes a special diet and regular medical care.
ODS Director - Paul M. Coates Roe CR, Coates PM Mitochondrial fatty acid oxidation disorders. In The Metabolicand Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, http://dietary-supplements.info.nih.gov/About/ODS_Director.aspx
Extractions: Paul M. Coates, Ph.D. was appointed Director of the Office of Dietary Supplements (ODS) at the NIH effective October 25, 1999. He served from 1996-1999 as Deputy Director of the Division of Nutrition Research Coordination (DNRC) at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). In that role, Dr. Coates helped to coordinate human nutrition research efforts, both at the NIH and between the NIH and other government agencies. Among these efforts was Healthy People 2010 , the initiative from the U.S. Department of Health and Human Services (DHHS) to set public health goals for the nation. Dr. Coates co-leads the development of the Nutrition/Overweight chapter for which he received the NIH Director's Award for outstanding activities. Dr. Coates acted as Co-Chair of the joint DHHS/USDA Steering Committee overseeing plans for the National Nutrition Summit that was held in Washington in May 2000. He also is a member of the Federal Steering Committee that oversees the development of the Dietary Reference Intakes. Prior to joining the DNRC, Dr. Coates was NIDDK's Program Director for the Type 2 Diabetes Research Program (1993-1996) and Project Officer for the multi-center clinical study called Epidemiology of Diabetes Interventions and Complications (1994-1996). From 1994 until his departure from NIDDK, he maintained an active interest in career development and fellowship training in the Division of Diabetes, Endocrinology, and Metabolic Diseases.
Extractions: This Article Abstract Full Text (PDF) Purchase Article ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Ferdinandusse, S. Articles by Wanders, R. J. A. Journal of Lipid Research, Vol. 41, 336-342, March 2000
Extractions: This Article Full Text Full Text (PDF) Purchase Article ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Ferdinandusse, S. Articles by Wanders, R. J. A. Journal of Lipid Research, Vol. 41, 336-342, March 2000
