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         Galt Deficiency:     more detail

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)
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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

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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:
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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
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Glycobiology Advance Access originally published online on January 3, 2003
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Lai, K.
Elsas, L.J. Alert me when:
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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
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
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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.
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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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You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help Health Topics Click a letter to see a list of topics beginning with that letter A B C D ... GV G G Syndrome back to top G6PD Deficiency back to top GA GA I GA II Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase Deficiency ... back to top GB GBS back to top GC GCM Syndrome GCPS GCS back to top GE Gelineau's Syndrome Genee-Wiedemann Syndrome General fibrosis syndrome Generalized Flexion Epilepsy ... back to top GH GHBP GHD GHR back to top GI Gianotti Crosti Syndrome Giant Axonal Disease Giant Axonal Neuropathy Giant Benign Lymphoma ... back to top GL GLA GLA Deficiency Glandular Plague Glanzmann Disease ... back to top GN GNPTA back to top GO Goat Fever Goitrous Autoimmune Thyroiditis Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum) Goldenhar-Gorlin Syndrome ... Gonadal Dysgenesis (45,X)

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
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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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