1. Search By Disease Galactose1-phosphate uridylyltransferase (GALT) 9 Galactose-1-phosphate uridylyltransferase deficiency GALC deficiency. 14 galt deficiency. 15 Gamma-3-linked gene (GNG3LG) http://www.eddnal.com/directory/disease.php?letter=G

2. Texas Department Of Health-Newborn Screening screen using galactose1-phosphate uridyltransferase (GALT) instead of galactose oxidase (GAO) for for all forms of galactosemia only galt deficiency. The epimerase and kinase http://www.tdh.state.tx.us/newborn/commentGALT.htm

Newborn Screening Case Management Program Proposed Administrative Rule Change The Newborn Screening Program is proposing an amendment to the Texas Administrative Code (TAC),Title 25 and , replacing the term 'galactosemia' with 'galactose-1-phosphate uridyltransferase deficiency'. The newborn screening laboratory wants to screen using galactose-1-phosphate uridyltransferase (GALT) instead of galactose oxidase (GAO) for classical galactosemia to improve efficiencies in the laboratory. The rules state we are to screen for galactosemia which includes epimerase and kinase deficiencies as well as transferase deficiency. Classical galactosemia is caused by the transferase deficiency and is the life threatening form of galactosemia. Using GALT as a screen means we will not be screening for all forms of galactosemia only GALT deficiency. The epimerase and kinase deficiencies are not life threatening. They may be associated with cataracts, but otherwise have no effect. If you would like to comment on this proposed amendment, please send an email to newborn@tdh.state.tx.us

3. Newborn Screening Program - Galactosemia The biochemical consequence of galt deficiency is abnormally high concentrationsof galactose and its metabolites in body tissues and fluids. http://www.idph.state.il.us/HealthWellness/fs/galactosemia.htm

Galactosemia Definition Galactosemia is an inherited defect of galactose metabolism caused by an enzyme deficiency that prevents proper metabolism and utilization of galactose, or milk sugar. The main dietary source of galactose is lactose, the principle carbohydrate found in all forms of milk. Clinical Symptoms Although infants with galactosemia may appear normal at birth, within a few days to two weeks after initiating milk feedings, the symptoms of untreated galactosemia can become very severe. Early signs of the disease include feeding problems, poor sucking reflex, jaundice and hepatomegaly. Other symptoms may include failure to thrive, lethargy, cataracts, hypoglycemia, coagulation problems and decreased immunity. Newborn Screening and Definitive Diagnosis Treatment Incidence The incidence of classical galactosemia is one in 60,000 births. Illinois began testing for galactosemia in 1984 and more than 50 cases of classical galactosemia, 120 carriers and 20 cases with a variant form of the disorder have been identified. Inheritance Pattern Galactosemia is inherited in an autosomal recessive pattern. As an autosomal recessive disorder, the parents of a child with galactosemia are unaffected, healthy carriers of the condition and have one normal gene and one abnormal gene. With each pregnancy, carrier parents have a 25 percent chance of having a child with two copies of the abnormal gene, resulting in classical galactosemia. Carrier parents have a 50 percent chance of having a child who is an unaffected carrier and a 25 percent chance of having an unaffected, non-carrier child. These risks would hold true for each pregnancy. All siblings of infants confirmed to have galactosemia also should be tested; genetic counseling services should be offered to the family.

4. GALT Deficiency - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List galt deficiency.Advanced Search. Of the two, the galt deficiency is the most severe. http://www.medterms.com/script/main/art.asp?articlekey=18068

5. Deficiency, GALT - Medical Dictionary Definitions Of Popular Medical Terms There are two forms of the disease, galt deficiency (classic galactosemia) and galactosekinase deficiency. Of the two, the galt deficiency is the most severe. http://www.medterms.com/script/main/art.asp?articlekey=18069

6. Galactosemia,Galactose-1-Phosphate Uridyl Transferase Deficiency GALT Deficiency Galactosemia,Galactose1-Phosphate Uridyl Transferase Deficiency galt deficiency,Galactosemia,Galactose-1-PhosphateUridyl Transferase Deficiency,GALT http://www.icomm.ca/geneinfo/galactos.htm

Galactosemia,Galactose-1-Phosphate Uridyl Transferase Deficiency GALT Deficiency,Galactosemia,Galactose-1-Phosphate Uridyl Transferase Deficiency,GALT Deficiency For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Galactosemia (as defined by the National Organization for Rare Disorders also known as: Galactose-1-Phosphate Uridyl Transferase Deficiency GALT Deficiency Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the bodyÕs ability to convert galactose (a sugar contained in milk, including human motherÕs milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process. Two variants of the gene for Galactosemia have been identified.

7. Out deficiencydeficiencygalt deficiencygalt deficiencygalt deficiencygalt deficiencygalt deficiencygalt deficiencygalt deficiencygalt deficiency to those of galt deficiencyWhat to do http://web.indstate.edu/thcme/mwking/glycolysis.pdf

8. Definitions Of Genetic Disorders-G htm Galactosemia galactos.htm GALB Deficiency schindler.htm GallowayMowat Syndromegalloway.htm Galloway Syndrome galloway.htm galt deficiency galactos.htm http://www.icomm.ca/geneinfo/def-g.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter G Click on the link next to the disorder to view its definition. G Syndrome opitzgbbb.htm G6PD Deficiency g6pd.htm g6pd.htm GA I ga1.htm GA IIB ga2.htm GA IIA ga2.htm GA II ga2.htm fod.htm Galactorrhea-Amenorrhea Syndrome Nonpuerperal forbalb.htm Galactorrhea-Amenorrhea without Pregnancy adc.htm Galactosamine-6-Sulfatase Deficiency morquio.htm Galactose-1-Phosphate Uridyl Transferase Deficiency galactos.htm Galactosemia galactos.htm GALB Deficiency schindler.htm Galloway-Mowat Syndrome galloway.htm Galloway Syndrome galloway.htm GALT Deficiency galactos.htm Gammaglobulin Deficiency agamprim.htm GAN gan.htm Ganglioside Neuraminidase Deficiency ml4.htm

9. ADC -- Walter Et Al. 80 (4): 374 with generalised GALE deficiency, as with galt deficiency, is by restriction of of galactoproteins and galactolipids.In galt deficiency there is considerable endogenous production http://www.fetalneonatal.com/cgi/content/full/archdischild;80/4/374

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles in ADC Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Walter, J H MacFaul, R Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics Nutrition and Metabolism Arch Dis Child 374-376 ( April ) Generalised uridine diphosphate galactose-4-epimerase deficiency 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 Correspondence to: Dr Walter. email: Accepted 11 November 1998 Abstract Top Abstract Introduction Case reports Discussion References The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar

10. Mioti: Diseases + Conditions Diseases + Conditions galt deficiency. Search Mioti http://www.mioti.com/cat/condition/condition.asp?Cat=GALTDeficiency

11. Mioti: Diseases + Conditions Galactosemia, • Gall Bladder Disease. • Galloway Mowat Syndrome, • Gallstones.• galt deficiency, • Gambling Addiction. • Ganglion Cyst, • Gangrene. http://www.mioti.com/cat/condition/results.asp?Alpha=G

12. Glycobiology -- Abstracts: Lai Et Al. 13 (4): 285 Press. galt deficiency causes UDPhexose deficit in human galactosemic cells hUGP2) rescued galactose-1-phosphate uridyltransferase( GALT)-deficient yeast from "galactose toxicity http://glycob.oupjournals.org/cgi/content/abstract/13/4/285

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Glycobiology Advance Access originally published online on January 3, 2003 Full Text of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Glycobiology Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Lai, K. Elsas, L.J. Alert me when: new articles cite this article Download to Citation Manager All Versions of this Article: Final version Accepted manuscript version Glycobiology, 2003, Vol. 13, No. 4 Oxford University Press GALT deficiency causes UDP-hexose deficit in human galactosemic cells K. Lai S.D. Langley F.W. Khwaja E.W. Schmitt and L.J. Elsas Division of Medical Genetics, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA Genetics and Molecular Biology Program, Graduate Division of Biological Sciences, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322, USA Received on September 3, 2002;

13. Galactosemia - Genetics Home Reference Deficiency Disease; galt deficiency; UDPGalactose-4-Epimerase DeficiencyDisease; UDPglucose 4-Epimerase Deficiency Disease; UDPglucose http://ghr.nlm.nih.gov/condition=galactosemia

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Galactosemia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog Galactosemia What is galactosemia? Galactosemia is a disorder of sugar metabolism. This condition results when the body is not able to metabolize (break down) the sugar galactose, which is part of the sugar lactose, found in many foods but primarily in milk and other dairy products. Liver dysfunction, cataracts (clouding of the lens of the eye), speech problems, and mental impairment are characteristic of this condition. There are two main types of galactosemia, classic and Duarte variant. Individuals with the classic type of galactosemia lack the enzyme activity necessary to metabolize galactose. Individuals with the Duarte variant have approximately 5 to 20 percent of the enzyme activity necessary to metabolize this sugar and often do not have signs or symptoms of galactosemia. How common is galactosemia?

14. Entrez PubMed Abstract, galt deficiency causes UDPhexose deficit in human galactosemiccells. Glycobiology. 2003 Apr;13(4)285-94. Epub 2003 Jan 03. http://ghr.nlm.nih.gov/gene=galt/show/PubMed

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15. Galactosemia Classic Galactosemia, galt deficiency, Galactose1-Phosphate Uridyltransferase Deficiency enzyme galactose-phosphate uridyltransferase (GALT), which catalyzes the production http://www.geneclinics.org/profiles/galactosemia/details.html

Galactosemia Classic Galactosemia, GALT Deficiency, Galactose-1-Phosphate Uridyltransferase Deficiency. Includes: Variant Galactosemias] Author: Louis J Elsas II, MD, FACMG About the Author Initial Posting: 4 February 2000 Last Update 27 March 2003 Summary Disease characteristics. Galactosemia is a disorder of galactose metabolism that can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and sepsis in untreated infants. If a lactose-galactose-restricted diet is provided during the first ten days of life, the presenting symptoms quickly resolve and the complications of liver failure, sepsis, neonatal death, and mental retardation can be prevented. Despite adequate treatment from an early age, children with galactosemia remain at increased risk for developmental delays, speech problems (termed "verbal apraxia"), and abnormalities of motor function. Girls with galactosemia are at increased risk for premature ovarian failure. Diagnosis/testing.

16. Iroquois Indian Names And Iroquois Indian Baby Names - Boys Boy Girl Girls At Ba Iroquois Indian names and Iroquois Indian baby names Only newborn screeningfor galt deficiency will be addressed in this section. http://www.babynamesworld.com/names10/iroquois-indian-names-and-iroquois-indian.

Iroquois Indian names and Iroquois Indian baby names - boys boy girl girls name, names, baby name, baby names, old, origin, origins, meaning, meaning, meanings, meanings of boy boys girl girl list lists, 2004, 2005, 2006, 2007, 2008, 2009 Iroquois Indian names and Iroquois Indian baby names Iroquois Indian names and Iroquois Indian baby names Iroquois Indian names and Iroquois Indian baby names Research shows that infants benefit psychosocially and physiologically with infant massage. Also included in this packet is a multi-lingual crib safety tip sheet. Every state requires that infants and children ride buckled up. For more information on girl names visit babynamesworld.com. Perhaps they used a baby book with the meaning of names. Iroquois Indian names and Iroquois Indian baby names Only newborn screening for GALT deficiency will be addressed in this section. Iroquois Indian names and Iroquois Indian baby names Baby name meanings provides the meaning of many of the most common names. Irish Names for Boys and Girls Are you expecting a baby? I have seen bottled water marked for use in preparing infant formula. Why buy books if you can find baby names with name meanings for free. Twin behavior is different in monozygotic compared to twins. The Name Genderizer uses in build-in first name database of 11,000 common first names. Price the best deals on baby monitors with this comparison shopping service. We are here to help you with information about baby crib safety. There is more to your emotions and feelings during pregnancy.

17. Meaning Of Baby Names At Baby Names World Only newborn screening for galt deficiency will be addressed in this section. Onlynewborn screening for galt deficiency will be addressed in this section. http://www.babynamesworld.com/names2/meaning-of-baby-names.html

Meaning of baby names name, names, baby name, baby names, old, origin, origins, meaning, meaning, meanings, meanings of boy boys girl girl list lists, 2004, 2005, 2006, 2007, 2008, 2009 Meaning of baby names Meaning of baby names What kind of Irish names do you like? You can find information on the origins of certain Irish baby names for girls. Meaning of baby names We have a great list of baby girls names at our site. Best Baby Names - More easy to view names baby girl. Click here Infant potty training for photos and more information. Meaning of baby names Find out more about car seat safety. Meaning of baby names Meaning of baby names Meaning of baby names Meaning of baby names I have a nighttime diapering system which works wonderfully. Meaning of baby names One of the best sites about babynames on the web, find it out. Car seat safety is one of the first things to be considered when taking a baby with you in the car. Newborn screening for congenital hypothyroidism Resources for baby boy names, baby girl names and everything related. Meaning of baby names Meaning of baby names Visit www.babynamesworld.com to view baby names popular. The infant crib safety is a matter of public safety. First names and what they mean at www.babynamesworld.com Using cloth can cost well over $1000 during your child's diapering period. Meaning of baby names Need some babynames hints? check babynamesworld.com fot original ideas. Only newborn screening for GALT deficiency will be addressed in this section. We have an extended database with cool names to choose from.

18. Index Treatment Patient Information Cancer.gov Gallbladder disease Galloway Mowat SyndromeGalloway Syndrome Gallstones galt deficiency Gammaglobulin Deficiency http://my.webmd.com/hw/index/index-topics-G.asp

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19. Galactosemia report. Synonyms Galactose1-Phosphate Uridyl Transferase Deficiency;galt deficiency. Disorder Subdivisions None. General Discussion http://my.webmd.com/hw/raising_a_family/nord373.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Galactosemia Important It is possible that the main title of the report Galactosemia 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. Synonyms Galactose-1-Phosphate Uridyl Transferase Deficiency GALT Deficiency Disorder Subdivisions None General Discussion Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose (a sugar contained in milk, including human mother’s milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process. 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.

20. GALACTOSEMIAS Natural history. Late effects are common in patients with galt deficiencyand occur despite early diagnosis and treatment. These http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=458

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