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.
Clinical Laboratories Of The Midwest - Testing The Acylcarnitine Profile is for the differential diagnosis of fatty acid oxidationand organic acid disorders in children with clinical symptoms or family http://www.clmlab.org/testing/SDNSP_Optional.cfm
Extractions: 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.
HELLP Syndrome Birth Stories Page-Come Share Or Read A HELLP Story Understanding Autoimmune disorders. The Antiphospholipid Syndrome. A Fetal fattyAcidOxidation Disorder as a Cause of Liver Disease in Pregnant Women. http://mywebpages.comcast.net/anderpander/webarticles.html
Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. wp.pl Katalog Katalog wiatowy DMOZ Health Conditions and Diseases Genetic disorders http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Fatty
Urea Cycle Disorders There are five different urea cycle enzymes in the body, therefore there arefive different urea cycle disorders CPS (carbamylphosphate) deficiency. http://www.csmd.ca/ucd.htm
Extractions: Home Up Phenylketonuria Galactosemia ... Gaucher's Disease [ Urea Cycle Disorders ] Glycogen Storage Disorders Fatty Oxidation Disorder Mitochondrial Disease Organic Acidemias ... Hereditary Tyrosinemia The "urea cycle" refers to a series of biochemical steps in which nitrogen is removed from the blood and converted to urea. When a urea cycle disorder interrupts these steps, the nitrogen accumulates in the form of ammonia, which is highly toxic when allowed to build up in the body. If the ammonia concentration reaches the brain through the blood, it causes irreversible brain damage and/or death. There are five different urea cycle enzymes in the body, therefore there are five different urea cycle disorders: The name of the disorder indicates which enzyme is missing. www.nucdf.org - the National Urea Cycle Disorder Foundation Return to "
Extractions: The Lazzaro family, from left, Sam, Tom, a portrait of James, Jamie and baby Anna. (Photo credit: Kristen McClarty, Bloomington (IN) Herald-Times Tom and Jamie Lazzaro are busy. There's work, the kids Sam and Anna and the James William Lazzaro Foundation for Genetic Metabolism Disorders to run. It began with the call that every parent dreads. In August of 1997, Jim, their healthy eight-month old, awoke from his morning nap but then stopped breathing. Efforts to revive Jim at the Bloomington Hospital in Indiana failed. "It was an out-of-body experience," says Lazzaro '86 of the days following his son's death. Sam, then two and a half, needed attention, a blessing during those tormenting days. "We were both thankful to have Sam running around," says Lazzaro, who acknowledges life goes on but in a very different way. The initial medical reports offered little solace, though. An autopsy seemed to point to Sudden Infant Death Syndrome. The nebulous finding only deepened the Lazzaros' sense of emptiness. A couple of anomalies had been discovered, however fatty deposits the pathologists couldn't explain and an enlargement of the heart.
AEWIEM - Scientific Programme 2. Selective screening for inborn errors of metabolism (fatty acid oxidationdisorders, organic acidurias, amino acidopathies, ) using approved and new http://www.geneticahumana.lt/aewiem/progr-sci.htm
Extractions: The scientific programme of the 8 th AEWIEM will be organised in four sessions on the main topics 1. Newborn screening: state of the art and problems of introducing new technologies in the East and Central European countries. 2. Selective screening for inborn errors of metabolism (fatty acid oxidation disorders, organic acidurias, amino acidopathies, ) using approved and new technologies (HPLC, GC-MS, tandem MS). 3. Detection and handling of miscellaneous inborn errors of metabolism. 4. Modern methods in prenatal diagnosis of inborn errors of metabolism. There will be two types of oral presentations on the sessions: A book of the proceedings of the meeting (presumably a special issue of the journal Laboratorine medicina (Vilnius)) will be available. It will include the meeting programme, abstracts, short communications and full pappers. The Scientific Committee invites authors from all countries to submit abstracts to be considered for inclusion in the programme. Submitted abstracts will be sent to expert reviewers to select the authors for oral presentations, short communications and/or full articles.
Genetic Support Groups,alphabetical List F Fanconi Anemia Research Fund, Inc..http//www.fanconi.org. fatty OxidationDisorders Family Support Group Deb Lee Gould, MEd, Director http://aspin.asu.edu/geneinfo/sg-f.htm
Extractions: HOME DISORDERS GLOSSARY Alphabetical List of Genetic Support Groups beginning with the letter F Fabry Disease Home Page http://www.sci.ccny.cuny.edu/~fabry Fabry Support and Information Group http://www.cpgnet.com/fsig.nsf FACES, Nat'l Assn for the Craniofacially Handicapped email: faces@mindsping.com Facing Our Risk of Cancer Empowered (FORCE)
MGH Amino Acid Disorders Laboratory Diseasespecific sites Sites specific to one metabolicdisorder or a group of related disorders. http://www.mgh.harvard.edu/depts/aminoacidlab/aminoacid-links.htm
Support Groups - NNSGRC Support Groups. Links to support groups for newborn screening, geneticdisorders and birth defects. ASA KIDS A support group for families http://genes-r-us.uthscsa.edu/resources/consumer/support.htm
