Fatty Acid Oxidation Disorders of disease (OMIM); References with Abstracts. LCAD Deficiencyfatty Acid oxidation disorders. General Review and Biochemistry. MCAD Deficiency. http://www.hopkinsmedicine.org/cmsl/FAOD.html
Extractions: Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Md. 21205 Fatty Acid Oxidation Disorders General Review and Biochemistry MCAD Deficiency Description of disease (OMIM) References with Abstracts LCAD Deficiency Description of disease (OMIM) References with Abstracts LCHAD Deficiency Description of disease (OMIM) References with Abstracts
Extractions: AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Management of fatty acid oxidation disorders - Genetic Disease and Nutrition Nutrition Research Newsletter Jan, 2003 Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. 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.
Pediatrics Incidence And Short-term Outcome Of Children With OAD, organic acid disorder; FAOD, fatty acid oxidation disorder; MSMS, Organic acid disorders (OADs) and fatty acid oxidation disorders (FAODs) are http://www.findarticles.com/p/articles/mi_m0950/is_6_110/ai_95629505
Extractions: Fatty acid oxidation disorders are a group of inherited metabolic conditions that lead to an accumulation of fatty acids, and a decrease in cell energy metabolism. Each fatty acid oxidation disorder is associated with a specific enzyme defect in the fatty acid metabolic pathway and affects utilization of dietary and stored fat. Newborn screening in Illinois includes testing for a panel of acylcarnitines. In some cases, an elevated level of a particular acylcarnitine may indicate the possibility of one of several different fatty acid oxidation disorders; the specific disorder cannot be determined without further testing. It has been demonstrated that the following fatty acid oxidation disorders may be detected using this testing panel. Affected infants can be diagnosed in the neonatal period. Children with MCAD have a significant risk of death during the first, or subsequent clinical episode of hypoglycemia. In the past, these deaths were sometimes attributed to sudden infant death syndrome (SIDS). In most cases, the first episode arises following illness or fasting, and occurs in infancy or early childhood. Fatty acid oxidation disorders can cause recurrent episodes of hypoglycemia; clinical findings may include lethargy, hypotonia, failure to thrive, persistent vomiting, hepatomegaly, rhabdomyolysis and Reye syndrome-like episodes.
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.
Annual Reviews - Error Retrospective biochemical screening of fatty acid oxidation disorders in A fetal fatty acid oxidation disorder causes maternal liver disease of http://arjournals.annualreviews.org/doi/full/10.1146/annurev.physiol.64.082201.1
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Reactome: Mitochondrial Fatty Acid Oxidation Disorders Title, Mitochondrial fatty acid oxidation disorders. Publication year, 2001.Journal, The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&FOCUS_SPECIES=Homo sa
Reactome: PMID:11826276 Title, fatty acid oxidation disorders. Publication year, 2002. Journal, Annu RevPhysiol. Volume, 64. Pages, 477502. Author(s), Rinaldo, P Matern, D http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&FOCUS_SPECIES=Homo sa
Cyberounds (R) Conferences Medical Genetics Mitochondrial fatty acid oxidation disorders may account for 5% of episodes of SIDS. Patients withfatty acid oxidation disorders usually have symptoms related to fasting http://www.cyberounds.com/conf/medical_genetics/1999-09-05/
Extractions: var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Hereditary Metabolic Disorders Topics Introduction Amino Acid Metabolism Carbohydrate Metabolism Lipid Metabolism Pyruvate Metabolism Lipid Metabolism Buy The Book Print This Topic Email This Topic Pronunciations amniocentesis apheresis atherosclerosis cerebrotendinous xanthomatosis ... xanthomatosis Fats (lipids) are an important source of energy for the body. The body's store of fat is constantly broken down and reassembled to balance the body's energy needs with the food available. Groups of specific enzymes help the body break down and process fats. Certain abnormalities in these enzymes can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. Disorders caused by the accumulation of lipids are called lipidoses. Other enzyme abnormalities result in the body being unable to properly convert fats into energy. These abnormalities are called fatty acid oxidation disorders.
Entrez PubMed Genetic disorders of mitochondrial fatty acid betaoxidation have been recognizedwithin the last 20 years as important causes of morbidity and mortality, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Family Stories - Fatty Acid Oxidation Disorders fatty Acid Oxydation disorders. FAOD Unclassified. Katie. GA-II. Caden Carsen.LCHADD. Nora. MCADD. Alex Alexis Ben Blayze Brickman Gracie http://www.savebabies.org/familystories/2FattyAcidOxidationDisorders.php
Metabolic Causes Of Sudden And Unexpected Death In Early Life Retrospective biochemical screening of fatty acid oxidation disorders in postmortemlivers of 418 cases of sudden death in the first year of life http://www.savebabies.org/NBS/sids-medicalreport6-98.php
Extractions: By: Piero Rinaldo, MD In recent years, genetic disorders have gained unprecedented recognition in clinical medicine. Six to eight percent of children hospitalized in tertiary care hospitals are affected with single-gene defects, and metabolic disorders as a part of this group may soon be acknowledged (finally!) as a major health problem among pediatric patients. To date, however, the collective incidence of metabolic disorders continues to be underestimated and often first attributed to a variety of other causes, ranging from infections to poisoning and even to child abuse. On the other hand, the number of cases which were found to be affected with a fatty acid oxidation (FAO) disorder either postmortem or after the diagnosis of an affected sibling has soared in the last few years. Based on these observations, it has been postulated that FAO disorders might be responsible for 3 to 5% of SIDS cases, and possibly a much greater proportion of children who die suddenly and unexpectedly from birth to five years of age. If this estimate does not impress you, consider that it translates into 200-400 cases per year in the US alone!
IDPH - Center For Congenital And Inherited Disorders Individuals with fatty acid oxidation disorders are unable to break fats down The following is a list of the fatty acid oxidation disorders currently http://www.idph.state.ia.us/genetics/expanded_panel.asp
Extractions: Site best viewed with Internet Explorer 5.5+ at 800x600 resolution or higher. Home Advisory Committee Birth Defects/Genetic Disorders Contact Us ... Resources Over thirty additional disorders can be screened simultaneously from a single blood spot specimen using tandem mass spectrometry technology (MS/MS). The Iowa Neonatal Metabolic Screening Program began a pilot study in October 2001 for the disorders detectable by MS/MS. Almost all Iowa infants born after October 2001 have been screened for all currently known MS/MS detectable disorders unless a parental waiver was signed. The disorders screened by tandem mass spectrometry fall into three categories of inheritable metabolic disorders: amino acid disorders fatty acid oxidation disorders , and organic acid disorders . Individuals found to have one of the detectable disorders by newborn screening are treated by dietary management, monitoring, and/or amino acid and vitamin supplementation to prevent or significantly reduce clinical symptoms.
Expanded Newborn Screening Using Tandem Mass Spectromety Glossary , fatty acid oxidation disorders (FAODs). This is a group of rareinherited conditions. FAODs are caused by missing or non-working enzymes. http://www.newbornscreening.info/GlossaryTerms/fattyAcidOxidationDisorder.html
Extractions: Glossary Fatty acid oxidation disorders (FAODs) This is a group of rare inherited conditions. FAODs are caused by missing or non-working enzymes. Normally, many enzymes are used by the body to break down fat into energy. In people with FAODs, one of these enzymes is not working and fat cannot be used for energy. If these conditions are not treated, they can lead to serious health problems.
Expanded Newborn Screening Using Tandem Mass Spectromety fatty acid oxidation disorders (FAODs) are a group of rare inherited conditions.They are caused by enzymes that do not work properly. http://www.newbornscreening.info/tools/DisorderDesc.html
Extractions: Guidelines The Disorder Descriptions contain messages about certain conditions identified through newborn screening. Disorders picked up via tandem mass spectrometry have been combined into the following three categories: Amino Acid Disorders, Fatty Acid Oxidation Disorders, and Organic Acid Disorders. For descriptions of specific disorders identified through tandem mass spectrometry, refer to our parent fact sheets To select a message for use: click on the appropriate category; highlight the message; copy it by pressing Ctrl-C on your keyboard or selecting "copy" from the Edit menu; paste it into your document by pressing Ctrl-V on your keyboard or selecting "paste" from the Edit menu. For more general newborn screening messages, refer to our
Extractions: Screening Issues For Other Fatty Acid Oxidation Disorders MCAD deficiency is a fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert fat into energy. Children with MCAD deficiency therefore cannot go without food for very long. Otherwise, they may develop low blood sugar, which can cause brain damage or even death. The gene defect for MCAD deficiency is inherited when both parents have the same abnormal gene and unknowingly pass it on to their baby. A parent who has the abnormal gene, but not the disease, is called a carrier. The health of a carrier is rarely affected. However, for each pregnancy of two such carriers, there is a 1 in 4 chance that the child will be born with the disease. MCAD deficiency occurs in about 1 in every 15,000 births in Australia. MCAD deficiency is more common in persons of a Northern European background, but it does also occur in other populations. WHAT PROBLEMS DOES MCAD CAUSE?
Extractions: feedback sitemap gap for health telehealth ... Fatty acid oxidation defects Well babies or children who present with vomiting, lethargy proceeding to coma and liver disease in the course of an intercurrent illness such as gastroenteritis or with prolonged fasting. Some patients never have symptoms. Elevation of octanoyl carnitine is determined using tandem mass spectrometry. Follow-up tests include a DNA test, urine organic acids, and plasma acyl carnitines. Avoidance of fasting, especially during intercurrent illness, when intravenous glucose may be needed. Can be reliably detected unless the baby is already ill and carnitine-depleted at the time of the test. Screening by tandem mass spectrometry can detect many of the fatty acid oxidation disorders including disorders of the carnitine cycle, and short chain and long chain disorders. The clinical features in untreated patients vary, and may involve liver disease, skeletal muscle and cardiac muscle disease.
