21. What Is Galactosemia? Galactosemia is a deficiency of GALT. The normal this process. In1998 therewere more than 130 mutations associated with galt deficiency. http://www.galactosemia.org/student_new.htm

Student Research Information PGC is happy to provide assistance to students writing research papers, essays, etc. about galactosemia. The following information was prepared by Barb Bense, (the mother of a galactosemic child), Paul Taylor ( ptaylortse@aol.com the father of a galactosemic child), and Paul Atkinson (also the father of a galactosemic child) to provide additional information to students who are researching galactosemia. Thank you Barb, Paul, and Paul !! Table of Contents What is the history of galactosemia (who and when it was discovered)? How is galactosemia transmitted by parents besides through their genes? Are there any steps that can be taken to prevent galactosemia? What is the scientific name of galactosemia? ... What is the treatment for galactosemia? What is the history of galactosemia (who and when it was discovered)? Another early detailed description of galactosemia was given by Mason, H.H.; Turner, M. E.(Chronic galactosemia: report of case with studies on carbohydrates. Am. J. Dis. Child. 50: 359-374, 1935). Dr. S. Segal presented a picture of this 30-year-old man diagnosed in infancy by Mason, H. H.; Turner, M. E. Beutler, E.; Baluda, M. C.; Sturgeon, P.; Day, R. : (

22. ADC -- Walter Et Al. 80 (4): 374 The index cases for each family (patients 1 and 3) presented with a clinical illnesssimilar to that seen in classic galactosaemia (galt deficiency) with poor http://adc.bmjjournals.com/cgi/content/full/archdischild;80/4/374

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles in ADC Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Walter, J H MacFaul, R Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics Nutrition and Metabolism Arch Dis Child 374-376 ( April ) Generalised uridine diphosphate galactose-4-epimerase deficiency J H Walter, a R E P Roberts, a G T N Besley, a J E Wraith, a M A Cleary, a J B Holton, b R MacFaul c a Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK, b Department of Child Health, Royal Hospital for Sick Children, Bristol BS1 5PZ, UK, c Pinderfields General Hospital, Wakefield, West Yorkshire WF1 4DG, UK Correspondence to: Dr Walter. email: Accepted 11 November 1998 Abstract Top Abstract Introduction Case reports Discussion References The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar

23. ADC -- Shield Et Al. 83 (3): 248 out in collaboration with the British Paediatric Surveillance Unit (BPSU) set outto ascertain and collect data on all cases of galt deficiency within the http://adc.bmjjournals.com/cgi/content/full/archdischild;83/3/248

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles in ADC Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Shield, J P H Marlow, N Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics Nutrition and Metabolism Arch Dis Child 248-250 ( September ) The relationship of genotype to cognitive outcome in galactosaemia J P H Shield c , E J K Wadsworth c , A MacDonald b , A Stephenson d , L Tyfield d , J B Holton c , N Marlow a a School of Human Development, University of Nottingham, UK, b Dietetic Department, The Birmingham Children's Hospital, UK, c Institute of Child Health, St Michael's Hill, Bristol, UK, d Department of Molecular Genetics, The Lewis Laboratories, Southmead Hospital, Bristol, UK Correspondence to: Prof N Marlow, Academic Division of Child Health, E Floor, East Block University Hospital, Queen's Medical Centre, Nottingham NG7 2UH, UK email: Accepted 30 March 2000 Abstract Top Abstract Introduction Methods Results Discussion References AIMS To evaluate the cognitive outcome of a cohort of children with galactosaemia in relation to genotype.

24. Galactosemia report. Synonyms. Galactose1-Phosphate Uridyl Transferase Deficiency;galt deficiency. Disorder Subdivisions. None. Related Disorders List. http://www.bchealthguide.org/kbase/nord/nord373.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord373"; var hwDocTitle="Galactosemia"; var hwRank="1"; var hwSectionHWID="nord373"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Galactosemia Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Galactose-1-Phosphate Uridyl Transferase Deficiency GALT Deficiency Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Lactose Intolerance, also known as Lactase Deficiency, Disaccharidase Deficiency, Glucose-Galactose Malabsorption, or Alactasia General Discussion Two variants of the gene for Galactosemia have been identified. One causes a milder form of the disorder, while the other is the cause of a more severe form. These variants can be distinguished by differences in galactose metabolism since each affects a different step in the conversion process. Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is absolutely essential to avoid serious lifelong disability.

25. Galactosemia activity. CONCLUSION galt deficiency is the most common form of galactosaemiain black children in the KwaZulu Natal region. Cases http://www.thedoctorsdoctor.com/diseases/galactosemia.htm

Background This is a rare inherited disorder of metabolism. There are two main variants, classic and Duarte. It is inherited as an autosomal recessive trait, meaning both parents must carry the defective gene. Galactose is a sugar, commonly formed when lactose, found in dairy products such as milk, cheese, butter, is broken down into galactose and glucose. In these patients, the enzyme normally responsible for metabolizing galactose is deficient or missing. This results in an accumulation of galactose which may infiltrate various organs including the liver and the lens. Over time, progressive liver and kidney failure may occur. Cataracts may occur. Progressive neurologic deterioration may also occur. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing ... Internet Links EPIDEMIOLOGY CHARACTERIZATION GEOGRAPHY Galactosaemia in black South African children. Ojwang PJ, Manickum T, Deppe WM. Department of Chemical Pathology, Faculty of Medicine, University of Natal, Durban, South Africa. East Afr Med J 1999 May;76(5):247-50 Abstract quote

26. Galactosemia report. Synonyms. Galactose1-Phosphate Uridyl Transferase Deficiency;galt deficiency. Disorder Subdivisions. None. General Discussion. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord373

27. Stoornissen In De Koolhydraatstofwisseling Klassieke Galactosemie ( galactose1-fosfaat-uridyltransferase deficiëntie ) Synoniemengalt deficiency; Classic Galactosemia OMIM 230400 OMIM Clinical http://www.homepages.hetnet.nl/~b1beukema/ziekkool.html

Stoornissen in de koolhydraatstofwisseling Stoornissen in de fructose stofwisseling: F ructosurie ( Essential Fructosuria - hepatic fructokinase deficiency ) Synoniemen: Hepatische fructokinase deficiëntie ; Ketohexokinase deficiëntie. OMIM: OMIM: Clinical Synopsis ExPASy: Ketohexokinase; EC 2.7.1.3 Enzym synoniemen: Ketohexokinase -phosphate Hereditaire fructose intolerantie ( Fructosemie ) Synoniemen: Fructosemia; fructose-1-phosphate aldolase deficiency; Fructose-1,6-biphosphate aldolase deficiency; Aldolase B deficiency OMIM: OMIM: Clinical Synopsis e-Medicine: Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance) ExPASy: Fructose-bisphosphate aldolase; EC 4 Enzym synoniemen: Aldolase; Fructose-1,6-bisphosphate triosephosphate-lyase Zie ook de gluconeogenese en de glycolyse Hereditaire fructose 1,6-bisphosphatase Deficiëntie Synoniemen: Fructose 1,6-diphosphatase deficiency; FBP-ase deficiency; FDP-ase deficiency OMIM: OMIM: Clinical Synopsis e-Medicine: Fructose 1,6-Diphosphatase Deficiency

28. Re: Classic Galactosemia My wife is a carrier of the of the abnormal Gene for galt deficiency and also hasone normal Gene that makes normal enzyme to convert Galactose to Glucose, ie http://www.galactosemia.com/discussion/archives1/00000147.htm

Galactosemia Forum Home Contents Search Post ... Up Re: Classic Galactosemia From: Gordon Chisholm Date: 18 Oct 1999 Time: Comments My wife is a carrier of the of the abnormal Gene for GALT deficiency and also has one normal Gene that makes normal enzyme to convert Galactose to Glucose, ie (NG), whereas I have the Duarte variant and the abnormal Gene for GALT deficiency, ie (DG). When we each passed on a Gene to April she got the 2 abormal Genes for GALT deficiency, therefore she is (GG) Classic Galactosemic. Last changed: October 18, 1999

29. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/G Top Health Conditions and Diseases G (0 links). galt deficiency@ (3); Galactosemia@(3); Gallstones@ (8); Gastric Cancer@ (20); Gastrointestinal Disorders@ (454); http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/G

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Conditions and Diseases G (0 links) GALT Deficiency Galactosemia Gallstones Gastric Cancer ... Gynecomastia News about G [ More news about G Books about G List Price: Amazon.com's Price: You Save: Prices subject to change. The Craft of Research (Chicago Guides to Writing, Editing, and Publishing) by: Wayne C. Booth Joseph M. Williams Gregory G. Colomb March, 2003 List Price: Amazon.com's Price: You Save: Prices subject to change. Memories, Dreams, Reflections by: Aniela Jaffe Clara Winston Richard Winston C.G. Jung 23 April, 1989 List Price: Amazon.com's Price:

30. Publication List Of K.-J. Hsiao: Conference Abstract (1996- 2000) 206. Lin CH, Liu MY, Chiang SH, Hsiao KJ. Common 1034 A mutation of galactose1-phosphateuridyl transferase (GALT) in Chinese galt deficiency patients. http://www.ym.edu.tw/ig/hsiao/publication/conference-5.htm

Publication List of Kwang-Jen Hsiao, Ph.D. (¿½ ¼s ¤¯ ±Ð ±Â) Conference Abstracts (1997 - 2004) Hsiao KJ , Chiang SH. Interlaboratory quality survey for maternal blood screening of Down syndrome in Taiwan. 2nd Asian Congress on Down Syndrome Screening, Taipei, 1997;36. Hsiao KJ . Trends in diagnosing inherited metabolic disease. J Paediatr Child Health, 1997;33 (Suppl.1):S14. Hsiao KJ , Chiang SH. The organization of the neonatal screening program in Taiwan. J Paediatr Child Health 1997;33(Suppl.1):S27. Liu TT, Lu SF, Hsiao KJ . Genonic structure of the human 6-pyruvoyl-tetrahydropterin synthase gene. 12th Jonint Annual Conference of Biomedical Sciences , Taipei, 1997;260. Lee YR, Chen CH, Hsiao KJ . Systematic search for variation in the human catechol-O-methyltransferase gene and Association study with schizophrenia. 12th Jonint Annual Conference of Biomedical Sciences, Taipei, 1997;261. Hsiao KJ , Liu TT, Lu SF, Wu SJ, Wu KF, Chiang SH. Mutation characteriation of Chinese phenylketonuria caused by 6-pyruvoyl tetrahydropterin synthase deficiency. 7th Intl. Congreess of Inborn Errors of Metabolism, Vienna, 1997;45. Shiue HS, Chang CL, Chang PL, Wang SS, Lin AP, Wu JS

31. Ingenta: Article Summary -- A Mouse Model Of Galactose-1-Phosphate Uridyl Transf GALTdeficient mice develop biochemical features similar to those seen in humanswith galt deficiency, but fail to develop the pattern of acute toxicity seen http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://ap/m

32. Genetic And Rare Diseases Information Center - Office Of Rare Diseases uridyltransferase deficiency. Synonyms Galactosemia. galt deficiency. Hepatomegaly,cataracts, and mental retardation. Disease Information. OMIM http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=2424

33. Sjukdom, Sjukdomslista På Engelska, Michel Tandläkare Ta Hand Om Dig Funnel Chest. G. Galactosemia. Gallstones. galt deficiency. Gastric Cancer.Gastrointestinal Disorders. Gastrointestinal Reflux Disorder. Gaucher s Disease. http://www26.brinkster.com/privtand/sjuk.htm

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34. Nieuwe Pagina 1 Only newborn screening for galt deficiency will be addressed in this section. Mostpeople do not look at the initials when making their baby name choices. http://members.home.nl/rudmer.kemper/GASTENBOEK.htm

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35. Galactosemics.org - Variant Forms Of Galactosemia classic galactosemia (galt deficiency) is the most serious form of the disease it comes from a child inheriting 2 defective genes, one from each parent http://www.galactosemics.org/forums/topic.asp?TOPIC_ID=72

36. Index - A To Z Âå¾Ç¹Ï®ÑÀ] - °ê»Ú«p¥Í°·±d¶é°Ï - 24Drs.com testtopic Gallium Scan medical-test-topic Galloway Mowat Syndrome nord GallowaySyndrome nord Gallstones major-topic galt deficiency nord Gam-Anon http://www.24drs.com/Health_Guide/health.asp?who=4115.21646

37. Annual Reviews - Error The creation of a knockout mouse model for galt deficiency was aimed at providingan organism in which metabolic challenges and gene manipulation could address http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.nutr.23.011702.07313

An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Annual Reviews Online uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Annual Reviews cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Annual Reviews cookie to use the system. What Gets Stored in a Cookie? Annual Reviews Online only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

38. Annual Reviews - Error Since the Duarte/galactosemia genetic compound variant of galt deficiency is associatedwith low GALT activity (approximately 25% of normal) and transient http://arjournals.annualreviews.org/doi/full/10.1146/annurev.genom.1.1.139

An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Annual Reviews Online uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Annual Reviews cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Annual Reviews cookie to use the system. What Gets Stored in a Cookie? Annual Reviews Online only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

39. NORD - National Organization For Rare Disorders, Inc. View Cart/Checkout. Copyright 1987, 1990, 1991, 1995, 1999 Synonyms of Galactosemiagalt deficiency; Galactose1-Phosphate Uridyl Transferase Deficiency. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Galactosemia

40. University Of Miami School Of Medicine FALDH Deficiency, FAO Deficiency, fatty alcohol NAD+ oxidoreductase Deficiency,fatty aldehyde dehydrogenase Deficiency, galt deficiency, glucocerebrosidase http://www.med.miami.edu/patients/glossary/list.asp?L=D&T=DICT

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