Entrez PubMed of a number of mutations which result in three forms of galactosemia which arecaused by kinase (GALK), transferase (galt), or epimerase (GALE) deficiency. http://www.biomedcentral.com/pubmed/11001796
Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order
Galactosemics.org - Iron Deficiency with low iron. Matthew s galt levels are twice the recommened high and we are using an aggresive approach on his diet. The Ross http://www.galactosemics.org/forums/topic.asp?TOPIC_ID=112
Utah Newborn Screening of the body. The State of Utah tests for the galactose1-phosphateuridyltransferase (galt) enzyme deficiency. In this condition http://www.health.utah.gov/newbornscreening/Galact_Variant_Cond.htm
Extractions: Galactosemia Information for Galactosemia Variant Conditions This information sheet will summarize the genetics of galactosemia and explain some of the issues involved when your child is identified as having a galactosemia allele variant. DEFINITIONS Allele: Alternative form of a gene that occupies the identical site on the chromosome and determines alternative characters in the inheritance. May also be called a variant gene. Autosomal recessive disorder: A condition in which two abnormal genes need to be present in order for the disease to exist. Carrier: A condition in which there is one normal gene and one abnormal gene present. The normal gene supplies the necessary "instruction" for the body to operate. WHAT IS GALACTOSEMIA? Galactosemia is an autosomal recessive disorder in which galactose accumulates in the blood, tissues, and organs of the body. The State of Utah tests for the galactose-1-phosphate uridyltransferase (GALT) enzyme deficiency. In this condition the body lacks the enzyme to break down the sugar galactose. Galactose is found primarily in milk and milk products (the milk sugar lactose breaks down into galactose and then glucose) and in some fruits and vegetables. Untreated, individuals with galactosemia may have symptoms such as vomiting, jaundice, enlarged liver, cataracts, and septicemia. If not treated, it may affect your child's development.
Biology 3202AP GrassRoots Galactosemia was first described in a variant patient in 1935 by Mason and Turner,galactose1-phosphate {galt} deficiency is the most common enzyme that http://www.hhm.k12.nf.ca/parsonsbio/galactosemia.html
Extractions: What is Galactosemia? Newborn babies who have galactosemia may be very sick as a result of the disease. Even if they dont become very ill, many remain jaundiced longer than other babies and may have difficulty gaining weight. Once they are fed with the formula without galactose or lactose, these problems will improve. Although the diet is for life, the risks of ingesting a small amount of lactose in later childhood are thought to be very small. Later on in life there can be some learning difficulties, more so with speech. At the present time, there is no cure for this disease. However, much research is being done into galactosemia. The treatment is currently entirely based on diet. Children with galactosemia must not consume any foods made with milk or milk products such as cheese, ice cream, breast milk and infant formulas. Many foods contain milk and should be avoided such as canned spaghetti, some cereals, cakes and yogurt. Also legumes, including lentils, split peas, and baked beans must be avoided. Bibliography
Children Living With Inherited Disease. Also Known As. Galactokinase deficiency, GALK. Galactosaemia, galt. Galactosialidosis,Gaucher Disease Type 1, Gaucher Disease Type 2, Gaucher Disease Type 3, http://www.climb.org.uk/Disorders/Golf.htm
Extractions: Search Our Site C hildren L iving with I nherited M eta b olic Diseases Metabolic Diseases 'G' The National Information and Advice Centre for Metabolic Diseases Disease Also Known As Galactokinase Deficiency GALK Galactosaemia GALT Galactosialidosis Gaucher Disease Type 1 Gaucher Disease Type 2 Gaucher Disease Type 3 Gilbert Syndrome Gitelman Syndrome Glanzmann Thrombasthenia Global Developmental Delay Global Disaccharide Intolerance Glucose 6-Phosphate Dehydrogenase Deficiency Glucose 6-Phosphate Isomerase Deficiency Phosphoglucoisomerase Deficiency Glucose Galactose Malabsorption Glucose Transporter Deficiency GLUT 1 Glutamate Formiminotransferase Deficiency Glutamyl Cysteine Synthetase Deficiency (Gamma) Glutamyl-Transpeptidase Deficiency (Gamma) Glutaric Aciduria Type I GA I Glutaryl-CoA Oxidase Deficiency Glutaric Aciduria Type III Glutathione Peroxidase Deficiency Glutathione Reductase Deficiency Glutathione Synthetase Deficiency Erythrocyte Glutathione Synthetase Deficiency Generalised Glycerol Kinase Deficiency Glycine N-methyltransferase Deficiency GNMT Glycogen Storage Disease General/Undiagnosed GSD Glycogen Storage Disease Type Ia Von Gierke Disease Glycogen Storage Disease Type Ib Glycogen Storage Disease Type Ic Glycogen Storage Disease Type Id
Autoimmunity Is A Type I Interferon-deficiency Syndrome Corrected Autoimmunity is a type I interferondeficiency syndrome corrected by ingested typeI IFN via the galt system. J Interferon Cytokine Res. 1999 Aug;19(8)841-52. http://www.aegis.com/aidsline/2000/jan/A0010969.html
Extractions: Brod SA; Department of Neurology, Graduate School of Biomedical Sciences; in Immunology, University of Texas Health Science Center at; Houston, 77030, USA. sbrod@neuro.med.uth.tmc.edu Abstract: Keywords: JOURNAL ARTICLE REVIEW REVIEW, ACADEMIC Administration, Oral *Autoimmunity Encephalomyelitis, Experimental Autoimmune/IMMUNOLOGY Human Immunosuppression Interferon Type I/*DEFICIENCY Intestinal Mucosa/*IMMUNOLOGY Lymphoid Tissue/*IMMUNOLOGY Multiple Sclerosis/IMMUNOLOGY Support, Non-U.S. Gov't
Extractions: (All hours are per Resident per Day) Resident Survey Measure Score County Ave State Ave Updated Percent of High-Risk Residents Who Have Pressure Sores Percent of Low-Risk Residents Who Have Pressure Sores Percent of Low-Risk Residents Who Lose Control of Their Bowels or Bladder Percent of Residents Who are More Depressed or Anxious Percent of Residents Who Have Moderate to Severe Pain Percent of Residents Who Have/Had a Catheter Inserted and Left in Their Bladder Percent of Residents Who Spend Most of Their Time in Bed or in a Chair Percent of Residents Who Were Physically Restrained Percent of Residents Whose Ability to Move About in and Around Their Room Got Worse Percent of Residents Whose Need for Help With Daily Activities Has Increased Percent of Residents With a Urinary Tract Infection Nursing Home Treatment Deficiencies No deficiencies in treatment have been reported.
Significant Scots - John Galt In this tale galt very rashly abandoned his own field of broad reality and imaginationcould aid him; and therefore it exhibited a marked deficiency both in http://www.electricscotland.com/history/other/johngalt.htm
Untitled However, if the intransit food is isolated from the galt by layers of gluey andhardened food (as a result of enzyme deficiency), no discriminatory action http://freedompressonline.com/FPO_FeaturedArticles_OmegaZyme.htm
Extractions: Editor's note: If you're at all skeptical about the effectiveness of these digestive enzymes, we challenge you to take two to four caplets or scoops of OmegaZyme TM with each meal for about three to five days; then, stop taking them altogether for one to two days. You'll immediately notice the contrast as your body goes back to what you will now realize was your earlier sub-par state of poor digestion and low energy. It is common knowledge that the human body is designed to obtain its fuel that enables it to properly function from food. In order to achieve this feat the food must be digested. Thus, digestion is a most familiar household word. Far less commonly known is what a complex and manifold process is required to perform our digestion in order to extract the necessary nutrients from our food. To understand these mechanisms and put their potentials in proper perspective, we first have to become familiar with a few basic principles. Digestion entails the chemical breakdown of the ingested food, programmed and carried out with high precision. Thus, digestion is essentially a carefully executed decomposition process carried out by an intricate array of interactive enzymes. The ingested food yields only a small proportion of substances that the body is able to assimilate. The rest is eliminated as waste.
Pediatric Research -- Abstracts: BERRY Et Al. 48 (3): 323 for 2 h after administration of 1 13 Cgalactose in 37 patients (348 y old)with galactose-1-phosphate uridyltransferase (galt) deficiency and 20 control http://www.pedresearch.org/cgi/content/abstract/48/3/323
Extractions: International Pediatric Research Foundation, Inc. GERARD T. BERRY RANI H. SINGH ALICE T. MAZUR NICOLE GUERRERO MARY JANE KENNEDY JIE CHEN ROBERT REYNOLDS MICHAEL J. PALMIERI PETER D. KLEIN STANTON SEGAL and LOUIS J. ELSAS, II A galactose breath test that quantitates [1- C]galactose conversion to CO provides information on the whole body galactose oxidative capacity. As there is little information on the relationship between whole body oxidation and the genotype in patients with galactosemia, we measured the
Emory Genetics Laboratory, Emory University Indications Classic galactosemia is an inborn error of metabolism causedby galactose1-phosphate uridyl transferase (galt) deficiency. http://server2k.genetics.emory.edu/lab/user/index.pl?display=tests&test=6
Interstate Mainline Deficiencies Submit a mainline deficiency. Credits. dse Darren Stuart Embry; eaEd Albert; hbe HB Elkins; jjk Jeff Kitsko; jdg John David galt; http://www.ajfroggie.com/roads/deficiency/i-mainline.htm
Extractions: Submit a mainline deficiency U.S.: [ AR DC FL GA ... WI Highway Location Deficiency type Comments Credit I-40 North Little Rock single lane Westbound only. jl I-55 West Memphis, at merge onto I-40 single lane Northbound only. ajf Highway Location Deficiency type Comments Credit I-395 exit from Southwest-Southeast Freeway single lane Northbound only. ov Highway Location Deficiency type Comments Credit I-95 Jacksonville, junction with I-10 single lane Temporary: due to construction of new Fuller Warren Bridge. bb Highway Location Deficiency type Comments Credit I-75 Macon, junction with I-16 single lane Southbound only. smc Highway Location Deficiency type Comments Credit I-94 north of Chicago, east end of Edens Spur single lane Eastbound only. bb, mgk I-39 Cherry Valley, at I-90 (Northwest Tollway) merge single lane pmj, mgk I-39 Rockford, at west US 20 split single lane mgk I-74 Moline, at I-80 single lane mc, mgk I-74 and I-80 "bump" in Colona single lane mc, mgk
Extractions: Antiretroviral therapy suppresses HIV replication in gut-associated lymphoid tissue Last Updated: 2001-02-13 13:02:33 EST (Reuters Health) WESTPORT, CT (Reuters Health) - Highly active antiretroviral therapy (HAART) suppresses HIV replication in gut-associated lymphoid tissue (GALT), effectively eliminating GALT as an HIV reservoir during treatment, according to a report in the January 1st issue of the Journal of Acquired Immune Deficiency Syndromes. GALT contains 50% to 60% of the body's lymphocytes, implicating it as a preferred and persistent site of HIV-1 replication in untreated patients, the authors explain. To determine whether GALT also fosters persistent HIV-1 replication during antiretroviral therapy, Dr. Andrew H. Talal, who is currently at Cornell University, New York, and colleagues measured parameters of HIV-1 infection in peripheral blood and GALT before and after HAART in eight HIV-1-infected individuals. Two patients had advanced disease and six had intermediate disease. All subjects responded to HAART with a rapid decline in plasma HIV-1 RNA to undetectable limits after an average of 20 days (by bDNA) and 100 days (by RT-PCR), the report indicates.
John David Galt - Questions Related To Enhancing "tar" cygwin dot com; Subject Questions related to enhancing tar ; From John David galt jdg at to Cygwin, I would like to correct what I see as a deficiency in the http://www.cygwin.com/ml/cygwin/2001-06/msg01772.html
Extractions: This is the mail archive of the cygwin@cygwin.com mailing list for the Cygwin project Index Nav: Date Index Subject Index Author Index Thread Index Message Nav: Date Prev Date Next Thread Prev Thread Next http://cygwin.com/ml/#unsubscribe-simple Bug reporting: http://cygwin.com/bugs.html Documentation: http://cygwin.com/docs.html FAQ: http://cygwin.com/faq/ Index Nav: Date Index Subject Index Author Index Thread Index Message Nav: Date Prev Date Next Thread Prev Thread Next
Extractions: The newborn screening test (NBS) is often is referred to as the "PKU" test, but the NBS test screens for more than just PKU. It tests babies for between 3 and 8 hereditary disorders. The test is done to find out if your baby has inherited a disorder for which early treatment can prevent death or mental retardation. It is very important that your baby is tested as soon as possible. Even parents who have no family history of these disorders, or who have already had healthy children can still have children with these disorders. In fact, most children with these disorders come from families with no previous history of the condition. The NBS blood test is performed by pricking your baby's heel and putting a few drops of blood on a special filter paper. The paper is sent to the laboratory where several tests are performed. The results are then sent to your hospital and doctor. If the test shows abnormal results, you will be notified and given directions on what to do. Follow the directions carefully. Usually additional tests will be necessary to determine if your child has the disorder.
Locus-Specific Mutation Databases galt, galt analysis database, Emory University, Atlanta, USA. GCH1, GTP cyclohydrolaseI deficiency, University Children s Hospital, Zurich, Switzerland. http://www.uwcm.ac.uk/uwcm/mg/docs/oth_mut.html
Extractions: A considerable number of locus-specific mutation databases have been constructed and made publically available via the internet. Many of the lesions present in these databases are included in the Human Gene Mutation Database . However, the locus-specific databases may contain additional unpublished material. An article reviewing current locus-specific databases recently appeared in Genome Res Please note that these sites listed below are not maintained in Cardiff, and that all queries regarding them should be addressed to the curators of the site in question. It should also be noted that inclusion of a site here does not automatically imply that the curators of HGMD have approved either the quality of the site or its contents. ATP-binding cassette transporter retina Retina International Multidrug resistance-associated protein 6 Retina International Sulphonylurea receptor X-linked adrenoleukodystrophy Academic Medical Center, Amsterdam, Holland and Kennedy Krieger Institute, Baltimore MD, USA ABO Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
Extractions: Click on letter of alphabet to jump to disease starting with that letter. A B C D ... Z Abetalipoproteinaemia Acetyl galactosaminidase deficiency Acetyl neuraminidase deficiency Acid-alpha-1,4-glucosidase deficiency Acid-alpha-N-acetyl neuraminidase deficiency Acid esterase deficiency Acid lipase deficiency Acid phosphatase deficiency Adenosine deaminase deficiency Adenylosuccinate deficiency Adrenoleukodystrophy (ALD) Alpha 1-antitrypsin deficiency Alpha-fucosidase deficiency Alpha-galactosidase A deficiency Alpha-galactosidase B deficiency Alpha-glucosidase deficiency Alpha-L-iduronidase deficience Alpha-mannosidase deficiency Alpha-methylaceto-acetyl-CoA-beta-ketothiolase deficiency Alpha-N-acetyl galactosaminidase deficiency Alpha-N-acetyl neuraminidase deficiency Alpha-thalassaemia Amino acid metabolism Amino adipic aciduria Amylo-1,6-glucosidase deficiency Amylopectinosis Andersen disease Anderson-Fabry disease Antitrypsin deficiency (alpha-1) Apolipoprotein CII deficiency Arginase deficiency Argininosuccinate lyase deficiency Argininosuccinate synthetase deficiency Argininosuccinic aciduria Arylsulphatase A deficiency Arylsulphatase B deficiency Aspartyl-beta-glucosaminidase deficiency Aspartylglucosaminuria Ataxia telangiectasia Beta-galactosidase deficiency Beta-glucosaminidase deficiency Beta-glucosidase deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-lipoproteinaemia Beta-mannosidase deficiency Beta-methylcrotonyl-CoA-carboxylase deficiency
Galactosemia o have normal galt activity. o reduced galactokinase activity isdiagnostic and is what causes cataracts. · Epimerase deficiency. http://www.genesoc.com/counseling/Outlines/galactosemia.htm
Extractions: Resources for Genetic Counselors site updated May 10, 2004 outlines links search Galactosemia If suspected remove lactose from diet while tests are pending If placed on lactose galactose restricted diet than symptoms quickly resolve and can prevent permanent damage Despite early treatment still at increased risk for With continued dietary management many individuals with galactosemia have good health, and are able to lead independent lives
