81. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Galactose1-Phosphate Uridyltransferase deficiency (Galactosemia) - Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during http://www.emedicine.com/ped/topic818.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Last Updated: July 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: GALT, galactosemia, GALT deficiency, galactose diabetes AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: George A Anadiotis, DO , Consulting Staff, Department of Pediatric Rehabilitation and Development, Division of Clinical and Biochemical Genetics, Emmanuel Children's Hospital Coauthor(s): Gerard T Berry, MD , Professor, Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia and University of Pennsylvania George A Anadiotis, DO, is a member of the following medical societies: American Medical Association , and American Society of Human Genetics Editor(s): Robert D Steiner, MD

82. Galactosemia to glucose. Galactose1-phosphate uridyl transferase (galt) deficiencyis the defect in the severe form of the disease. Diagnosis. http://gucfm.georgetown.edu/welchjj/netscut/genetics/Galactosemia.html

Galactosemia Test Biochemical assay detecting galactose uridyl transferase and galactose-one-phosphate (the Beutler test ). Heat and humidity degrade the transferase, yielding false positives. Hill test : fluorometric assay for galactose, used with Beutler, only positive after milk ingestion Paigen E. coli phage test : more reliable, also identifies other galactose disorders Confirmatory test Urine for non-reducing substances (+++ galatosemia, + galactokinase or epimerase deficiency, ++ in Vit. C), if negative, likely problem with fructose metabolism serum galactose and gal-1-phosphate, erythrocyte gal-1-phosphate uridyltransferase (by electrophoresis) Genetics Autosomal recessive 1:60,000 to 1:80,000 Pathology A cellular deficiency in one of the enzymes needed to convert galactose to glucose. Galactose-1-phosphate uridyl transferase (GALT) deficiency is the defect in the severe form of the disease Diagnosis Symptoms occurs within the first two weeks of life: jaundice, vomiting, lethargy, hepatosplenomegaly, cataracts, and failure to thrive may proceed to severe morbidity from liver failure, sepsis, or bleeding. Death may occur. E. coli

83. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?230400

84. “œŽ¿‰ÈŠw‚Ì‚±‚Æ‚Î / GlycogeneA-01 The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.glycoforum.gr.jp/science/word/glycogene/GGA01J.html

References Asano M, et al.: Growth retardation and early death ofƒÀ -1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells. EMBO J. 16,1850-1857, 1997 Lu Q, Hasty P, Shur BD,: Targeted mutation in ƒÀ -1,4-galactosyltransferase leads to pituitary insufficiency and neonatal lethality. Dev. Biol. 181, 257-267, 1997 Lu Q, Shur, BD,: Sperm from ƒÀ1,4-galactosyltransferase-null mice are refractory to ZP3-induced acrosome reactions and penetrate the zona pellucida poorly. Development 124, 4121-4131, 1997 Kido M, et al.: Presence of polysialic acid and HNK-1 carbohydrate on brain glycoproteins fromƒÀ-1,4-galactosyltransferase-knockout mice. Biochem. Biophys. Res. Commun. 245, 860-864, 1998 Kotani N, et al.: ImpairedƒÀ-1,4-galactosylation of core 2 0-glycans in erythrocytes ofƒÀ-1,4-galactosyltranferase knockout mice. Biochem. Biophys. Res.Commun. 260, 94-98, 1999 Kotani N, et al.: Knockout of mouseƒÀ1,4-galactosyltransferase-1 gene results in a dramatic shift of outer chain moieties of N-glycans from type 2 to type 1 chains in hepatic membrane and plasma glycoproteins. Biochem. J. 357, 827-834, 2001 Hansske B, et al.: Deficiency of UDP-galactose:N-acetylglucosamineƒÀ -1,4-galactosyltransferase-I causes the congenital disorder of glycosylation type IId. J. Clin. Invest. 109, 725-733, 2002

85. G From Linkspider UK Health Directory Match », All words -Any word -Exact text. Search », , http://linkspider.co.uk/Health/ConditionsandDiseases/G/

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic G assoicated to Health Directory Tree: Top Health Conditions and Diseases : G ( GALT Deficiency Galactosemia Gallstones Gastric Cancer ... MayoClinic.com G.I. Digest - AstraZeneca Find tips and answers to questions about heartburn and acid reflux disease. Request a free trial coupon for a prescription medication for acid reflux disease. MayoClinic.com G.I. Digest - AstraZeneca

86. New Page 1 Directory Results for G assoicated to Health from Linkspider.org. KeywordSearch G assoicated to Health. Search and Browse Information http://www.linkspider.org/index.cgi/Health/ConditionsandDiseases/G/

Directory Results for G assoicated to Health from Linkspider.org Keyword Search: G assoicated to Health Search and Browse Information about G assoicated to Health with The Linkspider Organization Search For: Match » -All words -Any word -Exact text Content » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Per-Page » default All Results Timeout » default 1 second 2 seconds 3 seconds 4 seconds 5 seconds 6 seconds 7 seconds 8 seconds 9 seconds 10 seconds 12 seconds 15 seconds 20 seconds Search Bar Download Suggest a Site Personalize Directory Topic G assoicated to Health Directory Tree: Top Health Conditions and Diseases : G ( GALT Deficiency Galactosemia Gallstones Gastric Cancer ... MayoClinic.com G.I. Digest - AstraZeneca

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