IDPH - Center For Genetics by tandem mass spectrometry fall into three categories of inheritable metabolicdisorders amino acid disorders, fatty acid oxidation disorders, and organic http://www.idph.state.ia.us/genetics/expanded_panel.asp
Extractions: Jump to Contents Home Birth Defects Advisory Committee Birth Defects / Genetic Disorders ... Resources Expanded Panel Disorders 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. Amino Acid Disorders Individuals with amino acid disorders have a deficiency in one of several pathways or cycles involved in protein metabolism. For amino acid disorders detectable by MS/MS, early treatment allows for the prevention of brain damage, mental retardation, coma, seizures, autistic-like disorders, and even death. The following is a list of the amino acid disorders currently detectable by the MS/MS screening. (ARG) Argininemia (ASA) Argininosuccinic Aciduria (ASS) Citrullinemia or ASA Synthetase Deficiency (HCU) Homocystinuria or Cystathionine Synthetase Deficiency ... (HHH) Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
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.
The Newborn Screening Disorders medical care. Back to top. fatty Acid oxidation disorders. The newbornscreen tests for these seven fatty acid oxidation disorders 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.
Extractions: The UMDF Medical Article List Subject: Short-Chain Acyl-CoA Dehydrogenation Disorder (SCAD) Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Andresen ; BS ; 2347* ; A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). ; 1993 ; 53(3) ; 730-9 Arden ; KC ; 3142* ournal of Human Genetics ; Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. ; Genomics ; 1995 ; 25(3) ; 743-745 Babidge ; W ; 5695 ; Sulfides impair short chain fatty acid beta-oxidation at acyl-CoA dehydrogenase level in colonocytes: implications for ulcerative colitis. ; Mol Cell Biochem ; 1998 ; 181(1-2) ; 117-24 Baerlocher ; KE ; 5696 ; Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. ; J Inherit Metab Dis ; 1997 ; 20(3) ; 427-31
NCSLPH - Newborn Screening fatty Acid oxidation disorders fatty acid oxidation disorders are caused by a geneticdefect or absence of metabolic enzymes involved in breakdown of fatty http://slph.state.nc.us/newborn/ConditionsTested.asp
Extractions: Galactosemia is an inherited disorder which affects the body's ability to breakdown galactose. Galactose is a sugar that is found in the disaccharide lactose or milk sugar. The buildup of galactose in the blood and other tissues of newborns with galactosemia begins soon after the infant begins taking milk (including breast milk) and infant formulas which contain lactose. Symptoms of galactosemia include vomiting, jaundice, failure to thrive and sepsis. Treatment involves elimination of lactose (and hence, galactose) from the diet. Without prompt treatment, neonatal mortality is high often due to E. coli sepsis. The thyroid gland makes a hormone that is important for normal growth and development. Primary hypothyroidism occurs when the baby's thyroid gland does not make enough thyroid hormone. Early diagnosis and treatment with medication can prevent mental retardation and problems in growth and development. CAH is an inherited disorder that affects the way the body produces certain hormones that control vital body functions. If a baby has CAH, the body cannot make these hormones. Early diagnosis and treatment with hormones will prevent abnormal development and death.
Vanderbilt University School Of Medicine gel electrophoresis, and gene sequencing reactions were used to define mutationsin patients with suspected mitochondrial fatty acid oxidation disorders or to http://www.mc.vanderbilt.edu/medschool/IBRviewrecord.php?id=135
Blackwell Synergy - Cookie Absent 22. Gregersen, N., Andresen, BS Bross, P. (2000) Prevalent mutations in fattyacid oxidation disorders diagnostic considerations. Eur. J. Pediatr. http://www.blackwell-synergy.com/links/doi/10.1046/j.1432-1033.2003.03949.x/enha
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The Hospital For Sick Children - Metabolism Research Staff Areas of Specialty Neurometabolic disease, fatty acid oxidation disorders.Brief Biography Neurometabolic disease and fatty acid oxidation disorders. http://www.sickkids.on.ca/research/custom/profiles/tein.asp
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.
THE MERCK MANUALSECOND HOME EDITION, Lipid Metabolism Disorders These abnormalities are called fatty acid oxidation disorders. People with kidneyfailure may need a kidney transplant. fatty Acid oxidation disorders. http://www.merck.com/mrkshared/mmanual_home2/sec23/ch282/ch282d.jsp
Wade Allen And Krav Maga Wade allen and krav maga practice with fatty acid oxidation disorders prepositionpractice, and 24 reported interaction with current or past patients with http://www.hostrich.com/fish-smoker-plans/
Entrez PubMed Click here to read A fetal fattyacid oxidation disorder as a causeof liver disease in pregnant women. Ibdah JA, Bennett MJ, Rinaldo http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Entrez PubMed here to read Retrospective biochemical screening of fatty acid oxidation disordersin postmortem livers of 418 cases of sudden death in the first year of life. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9
Metabolic Genetic Conditions Disorder, SaveBabies; Glutaric Acidemia TypeII, fatty oxidation Disorder(FOD) Support; Hypophosphatemia, Vitamin D Deficiency, Rickets; F http://www.kumc.edu/gec/support/metaboli.html
Extractions: Optional Supplemental Newborn Screening (including MCAD) In 1998, the death of a 6-month old SD child mimicked SIDS; the autopsy revealed that the cause of death was MCAD deficiency, prompting increased awareness in SD. A study reported in The Journal of Pediatrics suggests that up to 5% of all cases of sudden infant death are likely caused by a fatty oxidation disorder. Symptoms in infants with inborn defects in fatty acid oxidation are often difficult to recognize. MCAD accounts for approximately 2% of SIDS; additionally, 20% of patients with this disease will die during the first episode of illness unless diagnosed and treated. "Optional" test available to screen newborns for more than 30 inherited disorders of fatty acid oxidation, organic acid, and amino acid metabolism. These tests are not included in South Dakota's three mandated tests for PKU, hypothyroidism, and galactosemia. Includes screening for medium-chain acyl CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder that is the most common and readily treatable defect in mitochondrial beta-oxidation. MCAD fulfills the major criteria for newborn screening: 1) is potentially fatal if unrecognized, 2) incidence of 1:14,000 to 1:20,000 live births (similar to mandated PKU testing), 3) infants are generally asymptomatic at birth, 4) treatment is inexpensive and effective, and 5) diagnosis can reduce morbidity and mortality.
Molecular Genetics / WFU Core Labs Ibdah, JA Yang, Z. and Bennett, MJ Liver disease in pregnancy and fetalfatty acid oxidation disorders. Mol. Genet. Metab. 71182189, 2000. http://www.wfubmc.edu/molecular_genetics/faculty/ibdah_jamal.html
Extractions: R esearch in my laboratory is focused on studying the molecular basis of diseases associated with fatty acid oxidation defects. The emerging clinical significance of these recessively inherited genetic disorders have stimulated to a great extent molecular research in this field. Pediatric deficiency is associated with a variety of clinical manifestations including liver, cardiac, and neuromuscular phenotypes. Ongoing studies in my laboratory are designed to elucidate the molecular basis of these different phenotypes using human subjects and animal models. The first project in my laboratory utilizes human tissue to characterize these defects at the DNA, RNA, and protein levels and correlate various genotypes to different phenotypes. Our data document novel genotype-phenotype correlations in one of these disorders, pediatric deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD); which catalyzes the third step in the fatty acid oxidation spiral and comprises the C-terminal domain of the ?-subunit in the mitochondrial trifunctional protein. We documented that maternal acute fatty liver of pregnancy and/or HELLP (Hemolysis, Elevated Liver enzymes, and Low Platelets) syndrome developed in some women who carried fetuses diagnosed later to have pediatric LCHAD deficiency. Currently, we are studying the mechanism and molecular basis for this fetal-maternal interaction.
Health Library Children. fatty oxidation Disorder. FDA Consumer AffairsConsumerHelpline. FOD Family Support Group-fatty oxidation Disorder. Fonds http://myhealth.barnesjewish.org/library/healthguide/selfhelp/_SearchResults.asp
EFM Connections fatty oxidation Disorder. fatty oxidation DISORDER NETWORK The FODCommunication Network is intended to be used as a resource for http://www.efmconnections.org/efm/Resources/Resources.asp?category01Id=73
