Health Library - Medium Chain Acyl CoA Dehydrogenase Deficiency Dallas, TX 753670847 Tel (214)696-2188 Fax (214)696-3258 Tel (800)945-2188 Emailmizesg@ix.netcom.com FOD (fatty oxidation disorders) Family Support Group http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Extractions: Growth Related Issues growth rates / allergies / malabsorption issues Our child remains very small for her size. However, all women in the family on the father's side are small. We have been unable to find growth charts which take family member size into account. She enjoys eating table food - preferring to feed herself - but at nearly 4 years, she remains on Pediasure to maintain a high calorie intake. You may also wish to check out our g-tube / feeding issues page at http://members. ALLERY RELATED TOPICS http://www.alphanutrition.com/celiac/index.htm by Alpha Nutrition. Food Allergy Network http://www.foodallergy.org/ offers a newsletter and quite a bit of food allergy information. http://www.foodallergy.org:80/questions.html helps clarify the difference between food allergy and food intolerance. Wheat / Gluten free diet info http://www.wwwebguides.com/nutrition/diets/glutenfree/food.html provided by Webguide. (We checked allergy topics when she started falling further below the growth curve in spite of eating on a regular basis.) FEEDING ISSUES Conor's Story http://members.aol.com/lmwill262/page/index8.html
Marshfield Clinic Cattails: Wisconsin's Newborn Screening Panel fatty oxidation disorders, which were added to the screening panelin 2000. Babies with one of seven of these screened disorders http://www.marshfieldclinic.org/cattails/03/janfeb/default.asp?artID=4
Searchalot Directory For Nutrition And Metabolism Disorders Hypercholesterolemia (5); fatty oxidation disorders (4); Glutaricaciduria(4); Glycogen Storage Disease Type II (4); Hemochromatosis http://www.searchalot.com/Top/Health/ConditionsandDiseases/NutritionandMetabolis
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Health4 Information and support about fatty oxidation disorders, Fatty Acid Disorders,Metabolic Disorders, Newborn Screening and Carnitine Deficiency. http://www.robolink.co.uk/html/Health/health4/more5.html
Extractions: Global Search: Help Top Health Rate it ... Review It General Practice surgery based in Londonderry. This site contains details about the services offered by the surgery, as well as information about the surgery staff, clinics, location and facilities Date: 2002-1-15 Drombane Nursing Home Rate it Review It Specialising in the provision of Top Class Nursing with Tender Loving Care for Convalescent, Medical, Terminal and Frail Elderly Residents Date: 2002-1-20 E-access Bulletin Rate it Review It E-access Bulletin, news and research on technology for the blind and visually impaired Date: 2002-2-1 Fatty Oxidation Disorder Rate it Review It Information and support about Fatty Oxidation Disorders, Fatty Acid Disorders, Metabolic Disorders, Newborn Screening and Carnitine Deficiency Date: 2002-1-27 Gaucher Disease Rate it Review It Information for patients, relatives, doctors and researchers from an independent charity
Conference Summary professionals associated with Phenylketonuria, Organic Acidemia, Maple Syrup UrineDisease, Tyrosinemia, Homocystinuria, fatty oxidation disorders, and Urea http://www.pku-allieddisorders.org/conference.htm
Extractions: by Kathy Stagni, Saturday morning brought all the support groups together for one general session on subjects such as self-esteem issues, prevalence of ADHD in metabolic disorders, Federal legislation for metabolic formulas, obtaining metabolic formula reimbursements, the Scott C. Foster Metabolic Research Fund, Gene Therapy update and lastly, a professional panel of most of our speakers answering questions from the audience. NUCDF Member and Citrullinemia Conference Summary
Extractions: printer friendly FATTY ACID OXIDATION DISORDERS home more about us in your area conditions information ... how you can help search this site 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 these enzymes: MCAD deficiency is the commonest disorder. Patients with MCAD deficiency are healthy most of the time. Infections or prolonged fasting, however, can lead to drowsiness and coma or sudden death. This can be prevented by avoiding fasting and maintaining a regular intake of sugar during infections - by mouth or intravenously if the child vomits. With this simple management, outcomes are excellent. Patients with other fatty acid oxidation disorders also need to avoid fasting and to maintain a regular sugar intake during infections. Unfortunately, they can have additional problems, such as muscle problems or heart muscle disease. Treatment usually involves a low fat diet.
Fatty Acid Oxidation Disorders Clinical Mass Spectrometry Laboratory Kennedy Krieger Institute 707 North Broadway Baltimore, Md. 21205 fatty Acid oxidation disorders General Review and Biochemistry 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
The Contact A Family Directory - Index L 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
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
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. It has been demonstrated that the following fatty acid oxidation disorders may be detected using this panel. Short chain acyl-CoA dehydrogenase deficiency (SCAD) Glutaric aciduria type II (GA II)/ Multiple acyl-CoA dehydrogenase deficiency (MADD) 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.
A Newborn Screening Guide For Parents fatty Acid oxidation disorders. Babies with fatty acid oxidation disordersmust have regular medical care. Organic Acid disorders. http://www.idph.state.il.us/HealthWellness/nbsparentguide.htm
Extractions: Organic Acid Disorders Since newborn screening is not a Newborn screening by the Illinois Department of Public Health (IDPH) is required by state law, and every baby born in the state is screened for these rare disorders. As a parent, you may refuse newborn screening only if your religious beliefs and practices do not allow testing. You may be asked to sign a form if you refuse to have your baby tested for these serious disorders. Biotinidase Deficiency Congenital Adrenal Hyperplasia Galactosemia Hypothyroidism ... Phenylketonuria Phenylketonuria (PKU) may occur in one of every 12,000 births. Babies with PKU, an amino acid disorder, cannot properly use a substance found in proteins, phenylalanine. If this problem is not found and treated early, PKU can cause developmental delays and mental retardation. A baby with PKU is given a special formula and diet, and needs regular medical care. Sickle Cell Disease, Trait and Related Conditions
Research Mitochondrial Fatty Acid Oxidation Disorders And Cvs Rinaldo Mitochondrial fatty acid oxidation disorders and CVS Piero Rinaldo, MD Departmentof Genetics, Yale University School of Medicine, New Haven, Connecticut. http://www.cvsaonline.org/research 1998 symp mitochondrial fao disorders piero r
Extractions: -Choose a Selection- About CVS International CVS Center About CVSA-USA/Canada Medical Update Research Upcoming Events For Kids Only Adults with CVS Outreach How You Can Help Resources FAQ Search for: Home Site Map This page was last updated on: 03/13/2003 11:56 AM CVSA-USA/Canada Research Mitochondrial fatty acid oxidation disorders and CVS Department of Genetics, Yale University School of Medicine, New Haven, Connecticut Inherited disorders of fatty acid oxidation are a relatively new and growing class of inborn errors of metabolism. During fasting in a normal individual, decreased blood glucose results in mobilization of fatty acids from adipose tissue. The mobilized fatty acids undergo oxidation to produce energy with the end products of ketones. If there is a blockage in the oxidation of the fatty acids, this results in a lack of energy production and/or a build up of toxic metabolites. One of the clinical syndromes resulting from disorders of fatty acid oxidation can be cyclic vomiting syndrome. These metabolic disorders must be screened for by evaluation of blood and urine samples taken at the peak of an acute episode. To return to the 1998 Symposium Directory Click here
Genetic Disorders : Meddie Health Search fatty oxidation (4 (Rating 0.00 Votes 0) Rate It. GeneClinics Medical GeneticsKnowledge Base NIH funded, expertauthored descriptions of inherited disorders. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/
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.
Extractions: Gene Therapy ... 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.
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
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 Directory of National Genetic Voluntary Organizations : A large list of genetic support groups, some mitochondrial.
Mayo Clinic Roch: Pediatrics Staff Inborn errors of metabolism Mitochondrial fatty acid oxidation disorders Metabolicdisorders misdiagnosed as child abuse Metabolic causes of sudden and http://www.mayo.edu/pediatrics-rst/staff-pr.html
Extractions: Metabolic causes of sudden and unexpected death Patient Care Philosophy You can't diagnose what you don't know. Medical School University of Padova School of Medicine, Padova, Italy, 11/1976 - 11/1982 Residency/Fellowship Residency in Pediatrics, University of Padova School of Medicine, Padova, Italy, 12/1982 - 12/1986 Research Doctorate (Ph.D.) in Developmental Sciences, University of Padova School of Medicine, Padova, Italy, 1/1988 - 12/1992 Committees/Organizations Society for Pediatric Research (Editor, Pediatric Research 1993-1998) American Association for Clinical Chemistry Areas of Research Inherited defects of fatty acid transport as a cause of pediatric fulminant liver failure Postmortem diagnosis of fatty acid oxidation disorders Clinical, biochemical, and molecular characterization of newly discovered metabolic disorders
