21. 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=

22. Growth Related Issues / Growth Rates / Allergies / Malabsorption Issues fatty oxidation disorders http//laran.waisman.wisc.edu/fv/www/lib_mcad.htmcontains links and info about fatty acid oxidation issues. http://members.tripod.com/Greg_Hall_MSSW/ashley/grow.htm

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

23. 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

24. 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

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases : Nutrition and Metabolism Disorders Alkaptonuria Amyloidosis Celiac Disease Cholesterol and Other Fats ... Zellweger Syndrome Related Web Sites Glossary of Food-Related Terms - All food related terms, as well as diseases and disorders. Alphabet bar for easy searching. Update on Nutraceuticals: dot Pharmacy - Also referred to as functional foods. A definition and look at spreading fats, yoghurts and probiotics, cereal and grains, drinks, legal issues and government views. Binge Eating Disorder - Diagnosis and treatment of binge eating disorder.

25. Directory :: Look.com and Other Fats (52) CriglerNajjar Syndrome (6) Cystinosis (5) Diabetes (296) FamilialHypercholesterolemia (5) fatty oxidation disorders (4) Glutaricaciduria http://www.look.com/searchroute/directorysearch.asp?p=413377

26. 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

Northern Ireland's Definitive Search Engine RoboLink Search: Help RoboLink Home Add URL Tell a Friend Help / FAQs ... Contact 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

27. 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

Home Research Resources Disorders ... FAQ Fun Conference Facts We had approximately 325+ people attend. Disorders registered: 3MCC, MSUD, PKU, GA,2 MCAD, GA1, Citrullinemia, Carnatine Deficiency Undiagnosed, PPA, MMA, LCHAD, SCHAD/SCAD, TYR, IVA, VLCAD, HCU, CblC, GALT, and CPTII Attending States : AZ, CA, CT, DE, FL, GA, IA, IL, IN, KY, LA, MA, MD, ME, MI, MN, MO, MS, MT, NC, NH, NJ, NY, OH, PA, TN, TX, VA, WA, and WI. Families Attending from the following Countries : US, Iran, Canada, Australia, Brazi,l Germany, Speakers Attending from : US, Germany, Saudi, Arabia, Ireland Organic Acidemia Association Conference Summary 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 by Theresa Birlson, Mom

28. The Contact A Family Directory - FATTY ACID OXIDATION DISORDERS A description of fatty acid oxidation disorders and further resources. http://www.cafamily.org.uk/Direct/f25.html

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: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency Short-chain acyl-CoA dehydrogenase (SCAD) deficiency Multiple acyl-CoA dehydrogenase (MAD) deficiency (= Glutaric aciduria type II, GA II) Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency Trifunctional protein deficiency Carnitine palmitoyl-transferase I (CPT I) deficiency Carnitine palmitoyl-transferase II (CPT II) deficiency Carnitine acylcarnitine translocase deficiency Primary (systemic) carnitine deficiency 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.

29. 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

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

30. 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

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 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

31. Newborn Screening Program - MCAD And Other Fatty Acid Oxidation Disorders MCAD and Other fatty Acid oxidation disorders. It has been demonstrated that thefollowing fatty acid oxidation disorders may be detected using this panel. http://www.idph.state.il.us/HealthWellness/fs/mcad.htm

MCAD and Other Fatty Acid Oxidation Disorders Definition 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) Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) or Trifunctional protein deficiency (TFPD) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) Carnitine palmitoyl transferase deficiency type II (CPT II) or Carnitine/acylcarnitine translocase deficiency (CACT) Glutaric aciduria type II (GA II)/ Multiple acyl-CoA dehydrogenase deficiency (MADD) Clinical Symptoms 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.

32. 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

A Newborn Screening Guide for Parents Biotinidase Deficiency Congenital Adrenal Hyperplasia Galactosemia Hypothyroidism ... Organic Acid Disorders Why does my baby need newborn screening? 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. How will you test my baby? What disorders are included with newborn screening? 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

33. 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

Menu: -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 Piero Rinaldo, MD 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 13180 Caroline Court Elm Grove WI 53122 Phone: 262/784-6842 Fax: 262/821-5484 E mail: kadams@mcw.edu

34. 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/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome ITEMS: LINKS: Acid Maltase Deficiency A brief summary of AMD along with links and news. (Rating: 0.00 Votes: 0) Rate It Chromosome Deletion Outreach. Provides support and information to families. Includes family stories, a library, FAQs and resources. (Rating: 0.00 Votes: 0) Rate It Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. (Rating: 0.00 Votes: 0) Rate It GeneClinics: Medical Genetics Knowledge Base NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. (Rating: 0.00 Votes: 0) Rate It Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. (Rating: 0.00 Votes: 0)

35. Health Care Professionals' Guide To Newborn Screening - Fatty Acid Oxidation fatty Acid oxidation disorders. fatty Acid oxidation disorders (FOD)are a class of inborn errors of metabolism where there is an http://www.slh.wisc.edu/newborn/guide/fatty-acid-oxidation.shtml

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

36. The Children's Hospital At Westmead - Professionals - Fatty Acid Oxidation Defec Can be reliably detected unless the baby is already ill and carnitinedepletedat the time of the test. Other fatty acid oxidation disorders. http://www.chw.edu.au/prof/services/newborn/fatty_acid_oxidation.htm

Biochemical Genetics CHISM CKR Gene Therapy ... Fatty acid oxidation defects Fatty acid oxidation defects Medium-chain acylCoA dehydrogenase (MCAD) deficiency Clinical features: 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. Laboratory tests: Elevation of octanoyl carnitine is determined using tandem mass spectrometry. Follow-up tests include a DNA test, urine organic acids, and plasma acyl carnitines. Treatment: Avoidance of fasting, especially during intercurrent illness, when intravenous glucose may be needed. Screening considerations: Can be reliably detected unless the baby is already ill and carnitine-depleted at the time of the test. Other fatty acid oxidation disorders. 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. Clinical features: The clinical features in untreated patients vary, and may involve liver disease, skeletal muscle and cardiac muscle disease.

37. 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-CoA in mitochondria is substrate for b -oxidation FATTY ACID OXIDATION See: Fatty acid oxidation disorders Return to Mitochondrial pathways Return to Carnitine disorders Return to Neuromuscular Home Page

38. 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 a -Myosin heavy chain b -Myosin heavy chain ... Myosin light chain ATP generation systems Friedreichs Mitochondrial VLCAD Other Dystrophin complex: a -Dystrobrevin Titin External link: Gene mutation data base Hypertrophic cardiomyopathy: Disorders of sarcomere proteins Cardiac b myosin heavy chain l Chromosome 14q11.2-q13; Dominant 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 a -Tropomyosin l Chromosome 15q22; Dominant

39. 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 Academy for Cerebral Palsy and Developmental Medicine 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 Directory of National Genetic Voluntary Organizations : A large list of genetic support groups, some mitochondrial.

40. 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

Pediatric Home Problems Treated Staff Children's Hospital ... Maps Piero Rinaldo, M.D., Ph.D. Professor of Laboratory Medicine Director, Biochemical Genetics Laboratory Numbers Phone Fax Administrative Assistant Clinical Interests Inborn errors of metabolism Mitochondrial fatty acid oxidation disorders Metabolic disorders misdiagnosed as child abuse 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 College of Medical Genetics 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

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 90    Back | 1  | 2  | 3  | 4  | 5  | Next 20