41. University Of Miami School Of Medicine Gallop rhythm Gallstone pancreatitis Gallstones Gallstones and ERCP Gallstones, microscopicGallus gallus Gallus gallus genome GALT galt deficiency Galton, Sir http://www.med.miami.edu/patients/glossary/list.asp?L=G&T=DICT

42. Chromatographia Online - July 54 Abstracts When applied to 11 anonymous blood spots of heterogeneous genotypes of galt deficiencyall of the patients blood samples showed abnormal elevation of galactose http://www.chromatographia.de/chroma/daten/july_54_abstracts.htm

CHROMATOGRAPHIA An International Journal for Rapid Communication in Chromatography, Electrophoresis, and Associated Techniques Contents Volume (Issue): 54 July (1/2) 2001 Previous Issue Issue Listing Next Issue Some Studies of the Chromatographic Properties of Gels ('Artificial Antibodies/Receptors') for Selective Adsorption of Proteins D. Tong / Cs. Hetényi / Zs. Bikádi / J.-P. Gao / S. Hjertén non -charged monomers (acrylamide and N,N' Another universal method has been introduced for rapid screening of potential monomers and gels for the preparation of selective adsorbents. This very simple method is based on the assumption that the absorption maximum of a protein changes when the protein interacts with the free monomers or the adsorbent synthesized from the monomers (and does not change when the protein does not interact). Preliminary docking experiments indicate that selective adsorption of the protein by the polyacrylamide matrix is based primarily on hydrogen-bonding and dipole-dipole interactions. The strengths of these interactions can be varied by choosing different gel matrices (for removal of a given protein the interactions should be very strong, whereas they should be weaker for chromatographic analysis). Determination of the Antibiotic Zinc Bacitracin in Animal Food by High-Performance Liquid Chromatography with Ultraviolet Detection L. F. Capitán-Vallvey / N. Navas / A. Titos / R. Checa

43. Mol. Hum. Reprod. -- Hadfield Et Al. 5 (10): 990 1996 ). Another possibility is that maternal galt deficiency couldincrease the risk of endometriosis in female offspring. This http://molehr.oupjournals.org/cgi/content/full/5/10/990

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Abstract of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Mol. Hum. Reprod. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Hadfield, R.M. Kennedy, S.H. Alert me when: new articles cite this article Download to Citation Manager Molecular Human Reproduction, Vol. 5, No. 10, 990-993, October 1999 European Society of Human Reproduction and Embryology Diagnosing genetic disease Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population R.M. Hadfield S. Manek S. Nakago S. Mukherjee D.E. Weeks H.J. Mardon D.H. Barlow and S.H. Kennedy Department of Cellular Pathology, John Radcliffe Hospital, Oxford OX3 9DU, UK, Department of Human Genetics, University of Pittsburgh, USA Abstract An association between the N314D polymorphism of galactose-1-phosphate uridyl transferase and endometriosis has recently been reported in a North American population. To determine whether such an

44. Clinical Chemistry And Laboratory Medicine - Abstract Another form of galt deficiency is Duarte galactosemia with N314D mutation associatedalleles (Duarte2). Although heterozygotes for classical galactosemia are http://www.degruyter.de/journals/cclm/abs/9486.html

Clinical Chemistry and Laboratory Medicine Volume 40, Issue 11 Jana Lukac-Bajalo, Janja Marc, Barbara Mlinar, Natasa Karas, Ciril Krzisnik and Tadej Battelino GALT ) Gene in the Slovenian Population Abstract (XII.02)

45. Pediatric Research -- Abstracts: NING Et Al. 48 (2): 211 Home page K. Lai, SD Langley, FW Khwaja, EW Schmitt, and LJ Elsas galt deficiencycauses UDPhexose deficit in human galactosemic cells Glycobiology, April 1 http://www.pedresearch.org/cgi/content/abstract/48/2/211

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Full Text of this Article PDF Version of this Article Submit correspondence regarding this article Similar articles found in: Pediatric Research Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: NING, C. SEGAL, S. Alert me when: new articles cite this article Download to Citation Manager Pediatric Research International Pediatric Research Foundation, Inc. Galactose Metabolism by the Mouse with Galactose-1-Phosphate Uridyltransferase Deficiency CONG NING ROBERT REYNOLDS JIE CHEN CLAIRE YAGER GERARD T. BERRY PAMELA D. McNAMARA NANCY LESLIE and STANTON SEGAL The ability of mice deficient in galactose-1-phosphate uridyltransferase (GALT) to metabolize galactose was determined in animals weaned to a mouse chow diet for a 4-wk period. When given [ C]galactose intraperitoneally, these animals slowly oxidized the sugar, excreting only 5.5% of the dose as CO in 4 h, whereas normal

46. Entrez PubMed We characterized two novel mutations of the galactose1-phosphate uridyltransferase(GALT) gene in two Japanese patients with galt deficiency and identified http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

47. The Molecular Biology Of Galactosemia. After the cloning and sequencing of the GALT gene, more than 130 mutations in theGALT gene have been associated with galt deficiency; this review relates them http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=DocSum

48. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : First described in a variant patient in 1935 by Mason and Turner, galactose1-phosphateuridyltransferase (galt) deficiency is the most common enzyme http://www.emedicine.com/ped/byname/galactose-1-phosphate-uridyltransferase-defi

(advertisement) Excerpt from Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Synonyms, Key Words, and Related Terms: GALT, galactosemia, GALT deficiency, galactose diabetes Please click here to view the full topic text: Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Background: Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period. First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common enzyme deficiency that causes galactosemia. Removing lactose largely eliminates the toxicity associated with newborn disease, but long-term complications routinely occur, as reported by Komrower and Lee in 1970 and then delineated in a 1990 retrospective survey by Waggoner and associates. Pathophysiology: Galactosemia is associated with the following 3 enzyme deficiencies: Galactokinase converts galactose to galactose-1-phosphate and is not a common deficiency. Uridine diphosphate (UDP) galactose-4-epimerase epimerizes UDP galactose to UDP glucose and also is uncommon.

49. GlycoWord / GlycogeneA-01 fertilization, suggesting other binding molecules between sperm and eggs could compensatefor the 1,4-galt-I deficiency in natural mating(3). To understand http://www.glycoforum.gr.jp/science/word/glycogene/GGA01.html

-1,4-Galactosyltransferase ( -1,4-GalT) Gene KO Mice -1,4-Galactosyltransferase ( -1,4-GalT) (EC 2.4.1.38) is a glycosyltransferase that is required for the biosynthesis of the backbone structure from type 2 chain (Gal 4GlcNAc), which appears widely on N-glcans, O-glycans and glycolipids. The type 2 chain is particularly important in the synthesis of sialyl lewis x and SSEA-1, which play a role in the immune system and early embryogenesis, respectively. Although -1,4-GalT gene was believed to be a single gene in the past, novel -1,4-GalT genes were successively isolated in 1997-1998 to form the -1,4-GalT gene family consisting of seven genes. KO mice deficient in the -1,4-GalT activity and faint bands corresponding to the Gal 4GlcNAc structure detected in -1,4-GalT-I KO mice could be derived from other -1,4-GalT gene(s). -1,4-GalT-I KO mice were unexpectedly born normally, although an essential role of the Gal -1,4-GalT-I KO mice showed augmented proliferation and abnormal differentiation of intestinal and epidermal epithelial cells, suggesting the carbohydratechains synthesized by -1,4-GalT-I regulate proliferation and differentiation of epithelial cells (1).

50. To Save Money On Galactose Click Here For Galactose Discount Sources. 1935 by Mason and Turner, galactose1-phosphate uridyltransferase(galt) deficiency JBC Riehman et al. 276 (14) 10634 http://institutedc.org/res/44/Galactose.html

Galactose Prescription Drug Discount Sources Is Your Galactose Medication Too Expensive for Your Budget? You may qualify to get Galactose and your other prescription drugs for free. Pharmaceutical manufacturers have patient assistance programs that give away millions of dollars worth of free medication annually. Booklet explains how and where to go for help. A to z list of programs and cross reference of prescription drugs. Booklet cost $6 Galactose Pathway Galactose Pathway. View the 3-D version of this pathway. Glucose-6-phosphate. Galactose . Glucose-1-phosphate. Galactose -1-phosphate. Uridine diphosphate glucose. Uridine diphosphate galactose . Glycogen [ r-biopharm AG: Lactose and D-Galactose ... for the determination of lactose and D-galactose in foodstuffs such as milk and dairy products (e.g ... should not contain lactose. D-Galactose is like D-glucose a hydrolysis product of ... eMedicine - Galactose -1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Article by George A Anadiotis, DO Galactose -1-Phosphate Uridyltransferase Deficiency (Galactosemia) - Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during ... 1935 by Mason and Turner

51. 22 With Galactosemia to find those who are my age or older so I can obtain these answers, I was diagnosedwith galactose1-phosphate uridyl-transferase(galt) deficiency ata age six http://www.galactosemia.com/discussion/archives/_galdisc/00000417.htm

Galactosemia Forum Home Contents Search Post ... Previous Up 22 with Galactosemia From: Stacey Date: Time: 2:40:58 PM Remote Name: Comments please write to me at stacey_a_taylor@hotmail.com and we will talk. Thank you Last changed: September 22, 1999

52. GALT - Relevant Citations P183T, V159L, 528insG) and eleven sequence polymorphisms in italian patients withgalactose1-phosphate uridyltransferase (galt) deficiency. Human Mutation 8 http://www.emory.edu/PEDIATRICS/medgen/research/ref.htm

Relevant Citations Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama JI, Lin HC, Reichardt JKV, & Isshiki G, 1995. "Molecular characterization of galactosemia (type I) mutations in Japanese." Human Mutation Cooper, DN & Youssonffian H, 1988. "The CpG dinucleotides and human genetic diseases." Human Mutation Elsas LJ, Dembure P, Langley S, Paulk EM, Hjelm LN, & Fridovich-Keil JL, 1994. "A common mutation associated with the Duarte galactosemia allele." The American Journal of Human Genetics Elsas LJ, Langley SD, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN and Dembure PP, 1995a. "Galactosemia: A Strategy to Identify New Biochemical Phenotypes and Molecular Genotypes." The American J. Human Genetics Gathof BS, Sommer M, Podskarbi T, Reichardt J, Braun A, Gresser U, & Shin YS, 1995. "Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation." Human Genetics Hirokawa H, Okano Y, Ashino J, Imamura T, Suyama I, Isshiki, 1997. "Molecular Characterization of galacotsemia mutations (Type I) in Japanese." (Abstract #4) The 7th International Conference on Inborn Error of Metabolism, Vienna, Austria.

53. Newborn Screening: Glossary Of Newborn Screening Acronyms And Abbreviations GAII, Glutaric acidemia Type II/Multiple acyl-CoA dehydrogenase deficiency. galt,Galactose-1-phosphate uridylyl transferase. Gal-1-P, Galactose-1-phosphate. http://www.marchofdimes.com/professionals/580_9613.asp

View All Chapters Find Your Local Chapter June 2, 2004 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Clinical Issues and Considerations Glossary of Newborn Screening Acronyms and Abbreviations 17-OHP 17-hydroxyprogesterone 3-MMC 3-Methylcrontonyl-CoA carboxylase deficiency ABR Auditory brainstem response ACTH Adrenocorticotropic hormone AIDS Acquired immune deficiency syndrome ASA Arginiosuccinic lyase deficiency AZT Zidovudine BCKD Branched-chain ketoacid dehydrogenase BIA Bacterial inhibition assay Mitochondrial acetoacetyl-CoA thiolase deficiency C Centigrade CAH Congenital adrenal hyperplasia CAT Carnitine/acylcarnitine translocase deficiency CBAVD Congenital bilateral absence of the vas deferens CBC Complete blood count CC Homozygous hemoglobin C CF Cystic fibrosis CFTR Cystic fibrosis transmembrane regulator CoA Coenzyme A CORN Council of Regional Networks for Genetic Services CPT-I Carnitine palmitoyl transferase deficiency Type I CPT-II Carnitine palmitoyl transferase deficiency Type II Dl Deciliter DNA Deoxyribonucleic acid DOH Department of Health Dihydrolipoyl dehydrogenase ELISA Enzyme-linked immunosorbent assay FT Free thyroxine G Gram GA-I Glutaric aciduria Type I/Glutaryl-CoA dehydrogenase deficiency Type I GA-II Glutaric acidemia Type II/Multiple acyl-CoA dehydrogenase deficiency GALT Galactose-1-phosphate uridylyl transferase Gal-1-P Galactose-1-phosphate GENES The Genetic Network of New York, Puerto Rico and the Virgin Islands

54. Ingenta: Article Summary -- Evidence For Alternate Galactose Oxidation In A Pati The persistent, dietaryindependent elevation of galactose metabolites in patientswith galactose-1-phosphate uridyltransferase (galt) deficiency is probably http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://ap/g

55. On Endogenous Galactose Production In patients with classical galactosaemia, ie galactose1-phosphate uridyltransferase(galt) deficiency (McKusik 230400), long-term disturbances emerge even http://galactosaemia.com.hosting.domaindirect.com/galactosaemia/endogenous.html

Home About EGS About Galactosaemia National groups The diet What is Galactosaemia? Screening in Europe ... Hormones Endogenous galactose *) partly presented at the EGS Annual Meeting, June 2001 Prof. Dr. Peter Schadewaldt schadewa@uni-duesseldorf.de In patients with classical galactosaemia, i.e. galactose-1-phosphate uridyltransferase (GALT) deficiency (McKusik 230400), long-term disturbances emerge even when the patients are on an extremely galactose restricted diet. This might - at least in part - be attributable to the production of free galactose from endogenous sources leading to a so-called 'autointoxication' in the patients. We now addressed the question of quantity and age dependency of endogenous galactose production in galactosaemia. The rate of release of galactose from intracellular sources into plasma is assessed in overnight fasted healthy adults and galactosemic patients by galactose turnover measurements in vivo using stable isotope (1-13C)-labelled galactose as substrate and the primed continuous infusion approach ([1-13C]galactose priming i.v., 1 mg/kg body weight; i.v. infusion; 0.15 mg/kg body weight per h for 6 h). According to our experience, stable metabolic conditions are reached within 3 h after start of 13C-label infusion. In any case, in patients exhibiting GALT activity in RBC of less than 1 % of control, the release of galactose from endogenous intracellular sources ranged from 10 to 20 mg/kg body weight per d. In addition, about 3 to 10 mg/kg body weight per d of galactose was obviously converted intracellularly to yield galactitol prior to the release into the plasma compartment and subsequent excretion by the kidneys. Thus, estimates for total endogenous galactose production ranged from 12 to 25 mg/kg body weight per d (about 800 - 1800 mg/d at 70 kg).

56. GlycoWord / GlycogeneA-01 type mice during in vitro fertilization, suggesting other binding molecules betweensperm and eggs could compensate for the b1,4-galt-I deficiency in natural http://www.gak.co.jp/FCCA/glycoword/GGA01/GGA01E.html

b -1,4-Galactosyltransferase ( b -1,4-GalT) Gene KO Mice b -1,4-Galactosyltransferase ( b -1,4-GalT) (EC 2.4.1.38) is a glycosyltransferase that is required for the biosynthesis of the backbone structure from type 2 chain (Gal b 4GlcNAc), which appears widely on N-glcans, O-glycans and glycolipids. The type 2 chain is particularly important in the synthesis of sialyl lewis x and SSEA-1, which play a role in the immune system and early embryogenesis, respectively. Although b -1,4-GalT gene was believed to be a single gene in the past, novel b -1,4-GalT genes were successively isolated in 1997-1998 to form the b -1,4-GalT gene family consisting of seven genes. KO mice deficient in the b b -1,4-GalT activity and faint bands corresponding to the Gal b 4GlcNAc structure detected in b -1,4-GalT-I KO mice could be derived from other b -1,4-GalT gene(s). b -1,4-GalT-I KO mice were unexpectedly born normally, although an essential role of the Gal b b -1,4-GalT-I KO mice showed augmented proliferation and abnormal differentiation of intestinal and epidermal epithelial cells, suggesting the carbohydratechains synthesized by

57. Abstract 14970742 venosus in 19, heterozygous UDPgalactose 4-epimerase (GALE) deficiency in 16, andheterozygous galactose-1-phosphate uridyltransferase (galt) deficiency in 6 http://www.medicalengineer.co.uk/pmdisplay.php?pmid=14970742

58. -- Altered Metabolism Of Galactose Due To Deficient Enzyme Activity Or Impaired Classic galactosemia refers to the complete deficiency of the galt enzyme. Thereare numerous variants where galt activity is impaired, but not absent. http://pedclerk.bsd.uchicago.edu/galactosemia.html

GALACTOSEMIA Definition: Milk and dairy products contain lactose (glucose + galactose), the major dietary source of galactose. The metabolism of galactose produces fuel for cellular metabolism through its conversion to glucose-1-phosphate. Galactose also plays an important role in the formation of glycoproteins, glycolipids, and glycosaminoglycans. Galatactosemia is the altered metabolism of galactose due to deficient enzyme activity or impaired liver function resulting in elevated blood galactose concentration. Galactosemia results from the deficiency of one of three different enzymes, each with a distinct phenotype. Disorder Enzyme Deficiency Symptoms Description Classic Galactosemia Galactose-1-phospate uridyl transferase (GALT) Liver and renal dysfunction, cataracts, abnormal neurodevelopment, premature ovarian failure Most common and most severe form. Galactokinase Deficiency Galactokinase Bilateral cataracts, will resolve with dietary therapy Benign Generalized UDPgalactose-4-epimerase Deficiency Uridine diphosphate galactose 4-epimerase Similar to classic galactosemia with additional findings of hypotonia and nerve deafness Benign variant is common, when the defect is localized to red blood cells- no treatment required

59. Connexion new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italianpatients with galactose1-phosphate uridyltransferase (galt) deficiency. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=GALT

60. Entrez PubMed 230400), a more common autosomal recessive disorder of galactose metabolism causedby galactose1-phosphate uridyltransferase (galt; EC 2.7.7.12) deficiency. http://www.biomedcentral.com/pubmed/12705493

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central 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 J Inherit Metab Dis. 2002 Dec;25(8):629-34. Related Articles, Links Clinical features of galactokinase deficiency: a review of the literature. Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. Emma Children's Hospital, Amsterdam, The Netherlands.

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