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
Extractions: 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)? 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. : (
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
Extractions: Nutrition and Metabolism Arch Dis Child 374-376 ( April ) 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
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
Extractions: Nutrition and Metabolism Arch Dis Child 248-250 ( September ) 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
Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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.
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
Extractions: 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
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
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
Extractions: Time: 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
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
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
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
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
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
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
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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
Extractions: 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.
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
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
