61. A Case-Control Study Of Galactose Consumption And Metabolism In Relation To Ovar GALE deficiency may have features similar to galt deficiency, including newbornfeeding problems and retardation (29) . However, GALE deficiency is http://cebp.aacrjournals.org/cgi/content/full/9/1/95

HOME HELP FEEDBACK SUBSCRIPTIONS ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Cramer, D. W. Articles by Ng, W. G. Vol. 9, 95-101, January 2000 American Association for Cancer Research A Case-Control Study of Galactose Consumption and Metabolism in Relation to Ovarian Cancer Daniel W. Cramer E. Robert Greenberg Linda Titus-Ernstoff Rebecca F. Liberman William R. Welch Evelyn Li and Won G. Ng Abstract Top Abstract Introduction Materials and Methods Results Discussion References Consumption or metabolism of dairy sugar and ovarian cancer have been linked based on evidence that galactose may be toxic to ovarian germ cells and that ovarian cancer is induced in animals by depletion of oocytes. We assessed consumption of dairy products and obtained blood for biochemical and molecular genetic assessment of galactose metabolism in 563 women with newly diagnosed epithelial ovarian cancer and 523 control women selected either by random digit dialing or through lists of residents in eastern Massachusetts and New Hampshire. We observed

62. Karger Publishers Genetic manipulation of GalT expression has confirmed its function as a ZP3 receptor . rather than being the direct result of surface galt deficiency. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

63. Georgia Division Of Public Health Total deficiency of the galt enzyme produces no fluorescence. This test resultis considered Positive and usually indicates classical galactosemia. http://health.state.ga.us/programs/nsmscd/diag_galacto.asp

About Us Health Data Publications Programs ... Calendar Search this Site Powered by Services NSMSCD Program Overview Screening Disorders ... Education Newborn Screening for Metabolic and Sickle Cell Disorders Program Galactosemia Galactosemia is an autosomal recessive disorder, resulting from a deficiency in one of several enzymes necessary for the metabolism of galactose. Galactose (and glucose) is formed when lactose, the major sugar of milk and most non-soy commercial infant formulas, is digested in the body. The severe form of the disorder is due to almost total deficiency of the enzyme, galactose-1-phosphate uridyl transferase (GALT). Prevalence: (GA) 1:40,000 Clinical Features: The affected infant may appear normal at birth. Within a few days to two weeks after initiating milk feedings, the infant develops vomiting, diarrhea, lethargy, jaundice and liver damage. Untreated, the disorder may result in death, frequently associated with E. Coli septicemia. Infants surviving the above symptoms evidence developmental retardation, hepatomegaly, Fanconi's syndrome, growth failure and cataracts. Variant Forms of Galactosemia There are several genetic variants characterized by less severe reduction in the enzyme activity.

64. What Is Galactosemia? Galactosemia is a deficiency of galt. The normal galt enzyme exhibits Galactosemia is a deficiency typically of the galt enzyme involved in this process 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. : (

65. Parents Of Galactosemic Children Classical galactosemia is caused by a deficiency in activity of the enzyme by deficiency of galactose1-phosphate uridyltransferase (galt) is a severe http://www.galactosemia.org/medical.htm

Abstracts From Journal Articles on Galactosemia Metabolism 1999 Oct;48(10):1294-302 Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. Palmieri M, Mazur A, Berry GT, Ning C, Wehrli S, Yager C, Reynolds R, Singh R, Muralidharan K, Langley S, Elsas L 2nd, Segal S Department of Pediatrics, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, 19104, USA. PMID: 10535394, UI: 20004052 J Chromatogr B Biomed Sci Appl 1999 Sep 24;732(2):469-77 Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria. Shinka T, Inoue Y, Peng H, Zhen-Wei X, Ose M, Kuhara T Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan. We determined urinary galactose and 4-hydroxyphenyllactic acid (4HPLA) in 4338 of 5-day-old newborns using a newly developed GC-MS screening method. Fifty-two infants were chemically diagnosed as having transient galactosuria based upon elevated urinary galactose levels (4.78-30.53 mg/mg creatinine, control 1.10 +/- 0.89 mg/mg creatinine). These infants did not excrete galactitol or galactonic acid into the urine, which is typical of hereditary galactosemia. Nearly 40% of the transient galactosuria was associated with immature infants (low birth weight or borne before 37 gestational weeks). Immature hepatic function is one explanation for neonatal transient galactosuria, but heterozygotes or the carriers of galactose degradation enzyme deficiencies were also suspected in some of the newborns, judging from the comparisons of urinary galactose and 4HPLA excretion between neonates and patients with galactosemia.

66. Annual Reviews - Error Galactose1-phosphate uridyl transferase (galt) genotype and phenotype, Galactosemia the uridine diphosphate galactose deficiency-uridine treatment http://arjournals.annualreviews.org/doi/full/10.1146/annurev.nutr.23.011702.0731

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67. AllRefer Health - Galactose-1-Phosphate Uridyltransferase (Gal-1-PUT, Galactosem About 1 out of 65000 newborns has a deficiency of the galt enzyme (deficienciesof the other enzymes are much less common). http://health.allrefer.com/health/galactose-1-phosphate-uridyl-transferase-info.

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump Biopsy Blood Hemoglobin Blood Pressure Bone Scan Cardiac Catheterization Cholesterol Test Coronary Angiography CT ECG Echocardiogram Eye Exam MRI Pap Smear PSA Stool Guaiac Test Throat Swab Culture Thyroid Function Tests Ultrasound Urinalysis X-Ray 600+ More Medical Tests Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Galactose-1-Phosphate Uridyltransferase Galactose-1-Phosphate Uridyltransferase Definition Why is the Test Performed? How is the Test Performed? How to Prepare for the Test? How will the Test Feel? Normal Values ... Go To Main Page Alternate Names : Gal-1-PUT, Galactosemia Screen, GALT Definition This is a blood test that measures the level of GALT, an enzyme involved in breakdown of milk sugars (lactose/galactose). Why is the Test Performed? This is a screening test for galactosemia In normal diets, the major source of galactose is in the metabolism of lactose. The major source of dietary lactose is milk and dairy products. In most people, galactose is converted to glucose by a series of chemical reactions. Each chemical reaction is catalyzed by an enzyme About 1 out of 65,000 newborns has a deficiency of the GALT enzyme (deficiencies of the other enzymes are much less common). As a consequence, galactose accumulates in the blood (galactosemia) and tissues because it cannot be metabolized.

68. -- Altered Metabolism Of Galactose Due To Deficient Enzyme Activity Or Impaired Classic galactosemia refers to the complete deficiency of the galt enzyme.There are 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

69. Newborn Screening: Glossary Of Newborn Screening Acronyms And Abbreviations GAI, Glutaric aciduria Type I/Glutaryl-CoA dehydrogenase deficiency Type I galt, Galactose-1-phosphate uridylyl transferase http://www.marchofdimes.com/professionals/580_9613.asp

View All Chapters Find Your Local Chapter September 9, 2005 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 ... Genetics 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

70. JAIDS Journal Of Acquired Immune Deficiency Syndromes - Abstract: Volume 26(1) J JAIDS Journal of Acquired Immune deficiency Syndromes. After 6 months oftherapy, unspliced HIV1 mRNA in the galt was below assay detection although it http://www.jaids.com/pt/re/jaids/abstract.00126334-200101010-00001.htm

LWWOnline LOGIN eALERTS REGISTER ... Publish Ahead of Print Virologic and Immunologic Effect... ARTICLE LINKS: Fulltext PDF (153 K) Virologic and Immunologic Effect of Antiretroviral Therapy on HIV-1 in Gut-Associated Lymphoid Tissue. JAIDS Journal of Acquired Immune Deficiency Syndromes. 26(1):1-7, January 1, 2001. Talal, Andrew H. *; Monard, Simon *; Vesanen, Mika *; Zheng, Zhaoyao *; Hurley, Arlene *; Cao, Yunzhen *; Fang, Fang *; Smiley, Lynn +; Johnson, Judy +; Kost, Rhonda *; Markowitz, Martin H. * Abstract: Objectives: We evaluated virologic and immunologic responses to antiretroviral therapy in gut-associated lymphoid tissue (GALT) compared with those found in peripheral blood. Methods: Eight HIV-1-infected individuals were treated with three reverse transcriptase inhibitors and one protease inhibitor. Endoscopic biopsies were performed at baseline, and at months 1, 2, and 6. We measured the level of cell-associated multiply spliced and unspliced HIV-1 mRNA in GALT and in peripheral blood mononuclear cells. Immunologic responses were assessed by flow cytometry. Results: Levels of multiply spliced HIV-1 mRNA declined in parallel fashion both in peripheral blood and GALT. After 6 months of therapy, unspliced HIV-1 mRNA in the GALT was below assay detection although it persisted in peripheral blood mononuclear cells in 4 study subjects. Although the percentage of CD4+ lymphocytes increased significantly in peripheral blood, only modest increases occurred in GALT. The percentage of activated CD8+ T cells decreased significantly in peripheral blood whereas only modest reductions occurred in GALT.

71. JAIDS Journal Of Acquired Immune Deficiency Syndromes - Abstract: Volume 26(3) M JAIDS Journal of Acquired Immune deficiency Syndromes. Results The percentageof proliferative galt CD4+ T cells was increased in HIV1-infected http://www.jaids.com/pt/re/jaids/abstract.00126334-200103010-00002.htm

LWWOnline LOGIN eALERTS REGISTER ... Publish Ahead of Print Effect of HIV-1 Infection on Lymphocyte... ARTICLE LINKS: Fulltext PDF (21.45 M) Effect of HIV-1 Infection on Lymphocyte Proliferation in Gut-Associated Lymphoid Tissue. JAIDS Journal of Acquired Immune Deficiency Syndromes. 26(3):208-217, March 1, 2001. Talal, Andrew H. *; Irwin, Craig E. *; Dieterich, Douglas T. +; Yee, Herman +; Zhang, Linqi * Abstract: Objective: To determine the change in the percentage of proliferative and activated lymphocytes in gut-associated lymphoid tissue (GALT) in HIV-1-infected subjects compared with that in uninfected controls. Methods: We measured the percentage of proliferative (Ki-67+) and activated (CD-69+, HLA-DR+, CD45RO+) lymphocytes from GALT and peripheral blood in chronically HIV-1-infected (12) and uninfected (9) individuals. Results: The percentage of proliferative GALT CD4+ T cells was increased in HIV-1-infected control subjects compared with that in uninfected controls (p < .007). Based on immunohistochemical staining, proliferative T cells were principally located in the parafollicular area surrounding lymphoid aggregates. The percentage of activated GALT lymphocytes, however, was not significantly different in HIV-1-infected individuals, whereas it was significantly increased in the peripheral blood of HIV-1-infected individuals. The percentage of peripheral blood lymphocytes trafficking to the intestine was also not significantly different in HIV-1-infected individuals compared with that in uninfected controls.

72. European Galactosaemia Society (EGS) - Milestones Proof of the galtdeficiency. 1957, First screening test for galactosaemia. 1962.More information about the local group Prof. Dr. Med. http://galactosaemia.com/galactosaemia/milestones.html

Contact Breaking News Home About Galactosaemia Milestones The first description of galactosaemia was given by Thalhammer. Clarification of the pathways of metabolism. Proof of the accumulation of galactose-1-phosphate. Proof of the GALT-deficiency. First screening test for galactosaemia. Prof. Dr. Med. Brandt first time described Galactosaemia in Denmark. Beutler found the Duarte variant. Beutler found a simple spot screening test for galactosaemia. The Austrian newborn screening for galactosaemia started in 7 states of Austria. First assumption of endogenous production of galactose. The Irish newborn screening for galactosaemia started. Localisation of the chromosomes. The British support group for people with galactosaemia, the Galactosaemia Support Group, was founded. The DNS-structure of the GALT was detected. Study: Long-term prognosis in galactosemia: results of a survey of 350 cases. Waggoner D, Buist N, Donnell G. J Inherit Metab Dis 1990;13 (6):802-18 The Austrian support group for people with galactosaemia, the G A S T was founded.

73. European Galactosaemia Society (EGS) - Galactosemia In Europe - Galactokinase Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive by galactose1-phosphate uridyltransferase (galt; EC 2.7.7.12) deficiency. http://galactosaemia.com/galactosaemia/galactokinase.html

Contact Breaking News Home About Galactosaemia Galactokinase deficiency Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA Emma Children's Hospital, Amsterdam, The Netherlands Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive inborn error of galactose metabolism. Cataract and, rarely, pseudotumor cerebri caused by galactitol accumulation seem to be the only consistently reported abnormalities in this disorder. We performed a literature search to obtain information on the clinical spectrum of galactokinase deficiency. Endogenous production of galactose has been considered an important aetiological factor. Although damage may well occur in utero, available evidence suggests that damage will continue after birth. Inhibition of galactokinase may then be a promising approach for controlling damage in GALT-deficient patients. Last updated:

74. Magnesium In Oncogenesis Hass, GM, Laing, GH, galt, RM, McCreary, PA Role of magnesium deficiency inimmunity to neoplasia in the rat. Magnesium Bull. 1981; 3511. http://www.mgwater.com/cancer.shtml

THE MAGNESIUM WEB SITE ONLINE LIBRARY The Magnesium Web Site Online Library The Magnesium Web Site Home Page The Magnesium Web Site Page 2 Next Gordon Research Conference on Magnesium in Biological Processes and MedicineVentura, CA, Feb. 2007 Featured Editorial from Life Extension Magazine, Sept. 2005: How Many Americans Are Magnesium Deficient? Complete Book by Dr. Mildred S. Seelig: Mg Deficiency in the Pathogenesis of Disease The legal battle for recognition of the importance of dietary magnesium: Legal documents Healthy Water Association Healthy Water AssociationUSA Arab Healthy Water Association Search The Magnesium Web Site! Query Option Find ANY word Find ALL words Find EXACT phrase Search Help Site Search by PicoSearch THE MAGNESIUM WEB SITE ONLINE LIBRARY Paul Mason, Editor

75. Geneticalliance.org Congenital hypothyroidism (HYPOTH); Biotinidase deficiency (BIOT) Galactosemia (galt); Hearing deficiency (HEAR); Cystic Fibrosis (CF). Related links http://www.geneticalliance.org/ws_display.asp?filter=policy_newborn_screening

76. Galactosemia Testing Results, Normal Galactose1-Phosphate Uridyl Transferase activity (galt) Galactokinase deficiency or epimerase deficiency http://www.genetics.missouri.edu/Galactosemia.htm

Galactosemia Newborn Screening Results Protocol University of Missouri Health Care Important numbers: Dawn Peck, MS (Metabolic Genetic Counselor) Phone:573-884-5192 FAX: 573-884-3543 I. Normal Galactosemia Screen II. First Abnormal Galactosemia Screen with reduced enzyme activity, but normal total galactose levels III. Second Abnormal Galactosemia Screen with reduced enzyme, but normal total galactose IV. Abnormal Galactosemia Screen with reduced enzyme and elevated total galactose ... VIII. Invalid Galactosemia Screen because the infant was probably transfused I. Normal Galactosemia Screen: Results: Normal Galactose-1-Phosphate Uridyl Transferase activity (GALT) Interpretation No indication of a defect in galactose metabolism Remember, for a valid result, the infant must have been on a milk/lactose formula or breast milk for 24 hours. Recommendation: None II. First Abnormal Galactosemia Screen with reduced enzyme activity, but normal total galactose levels: Results: Reduced Galactose-1-Phosphate Uridyl Transferase activity (GALT) Interpretation: This is a "borderline result" with only a reduced Galactose-1-Phosphate Uridyl Transferase. This

77. UniProtKB/Swiss-Prot Entry P07902 [GALT_HUMAN] Galactose-1-phosphate Uridylyltra mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italianpatients with galactose1-phosphate uridyltransferase (galt) deficiency. http://www.expasy.org/uniprot/P07902

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers Entered in Swiss-Prot in Release 08, August 1988 Sequence was last modified in Release 36, July 1998 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Galactose-1-phosphate uridylyltransferase Synonyms EC Gal-1-P uridylyltransferase UDP-glucosehexose-1-phosphate uridylyltransferase Gene name Name: GALT From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE [MRNA]. TISSUE Fibroblast PubMed=2840550 [ NCBI ExPASy EBI Israel ... Reichardt J.K.V.

78. GALT - Galactose-1-phosphate Uridylyltransferase galactose1-phosphate uridylyltransferase (galt) deficiency) died in galactose-MEM . uridylyltransferase (galt) deficiency incubated with galactose. http://www.pdg.cnb.uam.es/UniPub/iHOP/gi/88526.html

Regulatory T cells in the GALT Abstract-5760273 GALT involvement in food allergy Abstract-6645977 Expression of ACONS and GALT in man-rodent somatic cell hybrids Abstract-3147592 IgA antibodies in the bile of rats. V. Primacy of the GALT as a source of IgA. Abstract-6952389 Purification of galactose-1-phosphate uridylyltransferase from human placenta Abstract-3908759 Galactose-1-phosphate uridylyltransferase activity in chronic lymphocytic leukemia Abstract-3412745 Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase : a population survey. Abstract-2369291 Additionally, human lymphoblasts derived from patients with the Duarte allele have reduced GALT mRNA Abstract-8825468 The ability of GalT aggregation to induce transient tyrosine phosphorylation was dependent upon cell density. Abstract-2134105 In cultures of fibroblasts deficient in uridyltransferase ( GALT -), it was 30 to 75% of control incorporation. Abstract-6471836 Enzymatic micromethod for measuring galactose-1-phosphate uridylyltransferase activity in human erythrocytes Abstract-2884154 Similar to the integrins

79. GALT - Galactose-1-phosphate Uridylyltransferase The following synonyms exist for gene galt (Galactose1-phosphate are causedby kinase ( GALK), transferase ( galt), or epimerase (GALE) deficiency. http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/88526.html

Stimulation of GALT and activation of mesenteric lymph node lymphocytes by a modified lysozyme in CBA mice with MCa mammary carcinoma Abstract-1286560 Significant insight into surface GalT I function in mammary gland development and morphogenesis has been gained through the analysis of mouse transgenic and knockout models of surface GalT I misexpression. Abstract-10187226 Furthermore, splenectomized B6 GalT (-/-), Ig micro -chain mutant ( micro (-/-)) (both Gal- and B cell-deficient) mice produced less anti-Gal IgM than nonsplenectomized controls after adoptive transfer of peritoneal cavity cells from B6 GalT (-/-) mice. Abstract-10081874 The loss of GalT I from sperm results in an inability to bind epididymal glycoconjugates that normally maintain sperm in an 'uncapacitated' state; removing these decapacitating factors from wild-type sperm phenocopies the capacitation behavior of GalT I-null sperm Abstract-10349990 GALT was excluded from (9)(p22 leads to pter Abstract-4079772 Epifluorescence light microscopy indicated substantial colocalization of and GalT Abstract-1086059 Approximately 75% of GalT was in the Golgi stack, whereas 80% of

80. Utah Newborn Screening tests for the galactose1-phosphate uridyltransferase (galt) enzyme deficiency . Several different variant genes can code (or make) the galt enzyme. http://www.health.utah.gov/newbornscreening/Galact_Variant_Cond.htm

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.

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