Extractions: Jamal A. Ibdah, M.D., Ph.D., Michael J. Bennett, Ph.D., Piero Rinaldo, M.D., Ph.D., Yiwen Zhao, B.S., Beverly Gibson, B.S., Harold F. Sims, B.A., and Arnold W. Strauss, M.D. Table of Contents Full Text of this article PDF of this article Find Similar Articles in the Journal ... Related Articles in Medline Articles in Medline by Author: Ibdah, J. A. Strauss, A. W. Medline Citation Liver Disease ... ABSTRACT Background Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a deficiency of long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase. This enzyme resides in the mitochondrial trifunctional protein, which also contains the active site of long-chain 2,3-enoyl-CoA hydratase and long-chain 3-ketoacyl-CoA thiolase. We undertook
K.U.Leuven Research Database KU.Leuven Research project, Coenzyme A metabolism in thepathophysiology of fatty acid, oxidation disorders. http://cwisdb.cc.kuleuven.ac.be/research/P/3M00/project3M000012.htm
K.U.Leuven Research Database KU.Leuven Research project, Coenzyme A metabolism in the pathophysiologyof fatty acid, oxidation disorders and organic acidurias. http://cwisdb.cc.kuleuven.ac.be/research/P/3M98/project3M980110.htm
The Newborn Screening Disorders fatty Acid oxidation disorders. The newborn screen tests for these seven fatty acidoxidation disorders Medium Chain AcylCoA Dehydrogenase Deficiency (MCAD). http://www.dhfs.state.wi.us/DPH_BFCH/Newborn_Screen/NBSdisorders.htm
Extractions: Licensing 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: Organic Acid Disorders Organic Acidemias (OA) are a class of inherited metabolic disorders that lead to accumulation of organic acids in biological fluids (blood and urine). This, in turn, produces disturbances in the acid-base balance and causes alterations in pathways of intermediary metabolism. Clinical symptoms of OA disorders may include vomiting, metabolic acidosis, ketosis, dehydration or coma, hyperammonemia, lactic acidosis, hypoglycemia, failure to thrive, hypotonia, global developmental delay, sepsis and hematological disorders . Feeding Effect : None http://www.slh.wisc.edu/newborn 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. Feeding Effect : None
MS_MS Parent Information Organic Acid disorders. fatty Acid oxidation disorders. Amino Acid disorders. fattyacid oxidation disorders occur when one of these enzymes is missing. http://www.dhs.cahwnet.gov/pcfh/GDB/html/NBS/MS_MSParentDisordersDetected.htm
Extractions: GENETIC DISEASE BRANCH PCFH Home Page GDB Home Page SUPPLEMENTAL METABOLIC SCREENING SUPPLEMENTAL METABOLIC SCREENING (Information For Parents) DISORDERS POTENTIALLY DETECTED All of the disorders below are autosomal recessive , which means that, although usually neither parent is affected, each parent must have passed a gene for the disorder to their baby in order for the baby to be affected. There is a one-in-four chance that this will happen each time the couple has a birth. Amino Acid Disorders Organic Acid Disorders Fatty Acid Oxidation Disorders Amino Acid Disorders The terms "amino acidemia" and "amino aciduria" refer to disorders in amino acid metabolism (breakdown process to provide energy or heat for body functions). Amino acids are the chemical building blocks of human proteins. Proteins are responsible for the functioning of cells in the body. In order for amino acids to work, specific enzymes must be present. Aminoacidurias are disorders resulting from deficiencies (lack) of enzymes needed for amino acid metabolism or transport. This results in abnormal quantities of amino acids building up in the urine or blood. In large quantities, amino acids can be toxic to the body. Symptoms in babies will vary by disorder and may include slow development, vomiting, diarrhea, abnormal ordor or color of urine and/or a buildup of acid in the body (acidosis) and can result in mental retardation.
Extractions: GENETIC DISEASE BRANCH GDB Home Page NBS Home Page Comments The California Newborn Screening Program SUPPLEMENTAL METABOLIC SCREENING Disorders Potentially Detected Amino Acid Disorders Organic Acid Disorders Fatty Acid Oxidation Disorders Amino Acid Disorders The term "Amino Acid Disorders" applies to a group of disorders characterized by the excretion of abnormally high levels of amino acids in blood (amino acidemia) and urine (amino aciduria). These autosomal recessive disorders result from a deficient enzyme activity in the pathway for the catabolism of the amino acid. Organic Acid Disorders The term "Organic Acid Disorder" applies to a group of disorders characterized by abnormally high levels of certain organic intermediates in the catabolism of the amino acids isoleucine, valine, methionine, threonine, tryptophan and lysine. In addition, oxidation of odd-chain fatty acids will produce certain organic acids. These autosomal recessive disorders result from deficient enzyme activity in the catabolic pathways mentioned.
In-Vitro Probe For Defects Of Fatty Acid Oxidation Van Hove, JLK Acylcarnitines in fibroblasts of patients with longchain 3-hydroxyacyl-CoAdehydrogenase deficiency and other fatty acid oxidation disorders. http://www.duke.edu/~mdfeezor/dukemedicalgenetics/invitroprobe.htm
Extractions: Mitochondrial fatty acid beta-oxidation is mediated by a series of enzymes that catalyze the transfer (across mitochondrial membranes) and the degradation of long-chain fatty acids into acetyl-coenzyme A (coA) units, with transfer of electrons to the electron transport chain. Defects are known to occur in most of the enzymes that have thus far been characterized, and in most cases these defects cause the accumulation of abnormal acyl-coA intermediates that can be detected as acylcarnitines in the blood of affected patients (see "Acylcarnitine Profile"). In most cases, a presumptive diagnosis can be ascertained from the plasma or blood acylcarnitine profile, but there are some limitations with this in-vivo test. It is well established that the beta-oxidation system in the liver is normally quiescent until at least 4-6 hr into the fasting state, and thus abnormal metabolites might not reach detectable levels unless the patient is fasting or experiencing a clinical episode. When patients with certain defects of long-chain fatty acid oxidation become severely ill, the abnormalities can reflect multiple enzyme systems and lead to difficulties in interpretation. Also, certain drugs and dietary supplements can alter the acylcarnitine pattern and obscure a possible diagnosis. For these reasons, an in-vitro test was invented and developed in this laboratory. This test is based on the analysis of acylcarnitines that accumulate in the cells and media of fibroblast cultures exposed to long-chain fatty acid in the presence of excess L-carnitine (1,2). Under these controlled conditions, the patterns of disease profiles are consistent. The method is particularly well suited to the diagnosis of long-chain defects, which are the most difficult to diagnose using
Extractions: Emergency Card for Infants with Suspected Fatty Acid Oxidation Disorders Birth Date Had a positive newborn screening test for , a fatty acid oxidation disorder. Breast milk, formula, or a glucose containing fluid should be provided at least every four- (4) hours. If this infant is unable to take oral fluids, IV fluids containing glucose should be provided, even if the baby looks perfectly well. Name of Physician_ Phone_
Supplemental Testing Project includes several additional genetic disorders that fall into two broad categoriesorganic acid/ amino acid disorders and fatty acid oxidation disorders. http://newborn.chmcc.org/supplemental_testing_project.htm
Extractions: The voluntary supplemental testing project offers screening for several additional conditions that are currently not a required part of the routine screening program. The project will help the state to decide what is important to include in future required routine screening. Participation or taking part in this project is voluntary. In the hospital, parents will be asked to let the hospital staff know whether or not you want their baby tested for these disorders. If parents agree to participate, the blood sample already taken for the required screening will be screened for more disorders. There is no additional blood needed and there is no additional cost to parents or third party payers. What disorders are included in the Supplemental Testing Project? The voluntary project includes several additional genetic disorders that fall into two broad categories: organic acid/ amino acid disorders and fatty acid oxidation disorders. All of the conditions listed below are ascertained using mass spectrometry. Some of the analyses will indicate the possibility of more than one disorder. These disorders may also have different degrees of severity, and the screening analysis may not be able to determine whether an affected infant has a mild or severe form of the condition. Some milder conditions may not cause important health problems. Other disorders may be identified for which there is no useful treatment.
Untitled Document When the peroxisome cannot break down these long fatty acids, the result is aset of disorders known as the boxidation disorders, sometimes called pseudo http://www.peroxisome.org/Layperson/peroxisomefunctiontext.html
Extractions: What different jobs does the peroxisome do? Peroxisomes are involved in the breakdown of many molecules Breakdown of fatty acids Above is a chemical structure of a typical fatty acid. Fatty acids are made up mostly of carbons and hydrogens, with an acid group at the end ( colored in blue ). Fatty acids can vary in the number of carbons attached to the acid group, ranging from only a few to as many as 36. These fatty acids are in nearly everything we eat cooking oils and butter are made up almost entirely of these types of molecules. We can store fatty acids, and later break them down to produce energy. This breakdown process is called b -oxidation (beta oxidation). Two organelles of the cell are involved in b -oxidation: the mitochondrion and the peroxisome. The mitochondrion is responsible for breaking down shorter fatty acids (less than about 20 carbons in length), while the peroxisome breaks down the longer fatty acids. When the peroxisome cannot break down these long fatty acids, the result is a set of disorders known as the b -oxidation disorders , sometimes called pseudo-Zellweger syndrome Breakdown of branched chain fatty acids The peroxisome is also responsible for the breakdown of certain branched chain fatty acids. A common branched chain fatty acid, phytanic acid, is shown below. It is different from the straight chain fatty acid shown above in that it has "branches" of carbon groups off the main carbon chain (
Oxidation Of Unsaturated Fatty Acids There have not been any disorders identified that are known to be characterizationof a new enzyme involved in the betaoxidation of unsaturated fatty acids http://www.peroxisome.org/Scientist/Biochemistry/auxiliaryboxtext.html
Extractions: Oxidation of polyunsaturated fatty acids Oxidation of polyunsaturated fatty acids Unsaturated fatty acids are b -oxidized in the normal pathway as far as possible. However, polyunsaturation or unsaturation at odd positions of the acyl-CoA will produce a molecule that the major pathway cannot utilize as a substrate. To solve this problem, a number of enzymes exist in the peroxisome to convert these molecules to appropriate substrates which can be shuttled into the normal pathway. D D 2,4-dienoyl-CoA isomerase Certain types of polyunsaturated fatty acids may enter the b -oxidation spiral and produce a D 3,5-dienoyl-CoA. This product is unable to enter the normal b-oxidation spiral, because the acyl-CoA oxidase adds a double bond at the 2 position, but cannot do this because of the double bond at the 3 position. Therefore, D D 2,4-dienoyl-CoA isomerase converts the D 3,5-dienoyl-CoA to a 2,4-dienoyl-CoA (see next section for how this product is further modified). This enzyme is both peroxisomal and mitochondrial, although it is encoded by separate genes. The human protein terminates in the PTS1 consensus Ser-Lys-Leu.
University Of Sydney Public View Title, Quantitative Fibroblast Acylcarnitine Profiling In The Diagnostic andPrognostic Assessment of Mitochondrial fatty Acid ßoxidation disorders. http://setis.library.usyd.edu.au/adt/public_html/adt-NU/public/adt-NU20021003.12
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://204.211.171.13/Newborn/ConditionsTested.asp
Disorders Of Mitochondrial Fatty Acid Oxidation The summary for this Chinese (Traditional) page contains characters that cannot be correctly displayed in this language/character set. http://www.vghtc.gov.tw:8082/ped/teaching/cpc/8901cpc/sld035.htm
[NBSannounce] Ohio Announces 16 New, Voluntary Newborn Screening Tests complications later. ODH will launch the program, which includes additional testingfor amino acid, organic acid and fatty acid oxidation disorders, on June http://www.geneticalliance.org/pipermail/nbsannouncements/2002-July/000109.html
Extractions: Mon, 15 Jul 2002 22:22:47 -0400 NEWBORN SCREENING IN THE NEWS ALERT Ohio Department of Health; June 27, 2002 ODH announces 16 new, voluntary newborn screening tests http://www.odh.state.oh.us/odhpress/news%20releases/mednews.newbornscreening NBSnews@savebabies.org. Thank you for your help. *********************************************************** The Newborn Screening News and Announcement list is hosted by: Save Babies Through Screening 5335 N. Helton Road Winston, GA 30187 Toll Free: 1-888-454-3383 Fax: 770-947-8507 Email: email@savebabies.org www.savebabies.org Newborn Screening Saves Babies One Foot At A Time (C) This message was not sent unsolicited. You are currently subscribed to this list. If you wish to unsubscribe from the list, please visit http://www.geneticalliance.org/mailman/listinfo/nbsannouncements#
Extractions: The UMDF Medical Article List Subject: Long-Chain Acyl-CoA Dehydrogenation Disorder (LCAD) 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 ; 3132 ; Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. ; 1996 ; 5(4) ; 461-472 Andresen ; BS ; 3135 cular Genetics ; The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 169-172 Aoyama ; T ; 5684 ; Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization. ; Genomics ; 1996 ; 37(1) ; 144-5 Aoyama ; T ; 3138* ; Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. ; Am J Hum Genet ; 1995 ; 57(2) ; 273-283
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
