Extractions: 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 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
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=
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
Extractions: Services NSMSCD Program Overview Screening Disorders ... Education 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). (GA) 1:40,000 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. There are several genetic variants characterized by less severe reduction in the enzyme activity.
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
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. : (
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
Extractions: Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia. 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. 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.
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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Extractions: 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
Extractions: 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 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
Extractions: 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.
Extractions: 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.
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
Extractions: 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:
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
Galactosemia Testing Results, Normal Galactose1-Phosphate Uridyl Transferase activity (galt) Galactokinase deficiency or epimerase deficiency http://www.genetics.missouri.edu/Galactosemia.htm
Extractions: 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 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)
Extractions: 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) 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
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
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
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
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.
