81. Galactosemia | AHealthyAdvantage You are here Home Ills Conditions galactosemia, galactosemia.Lica, Lorraine. galactosemia is an inborn error of metabolism. http://www.ahealthyadvantage.com/topic/galactosemia

Site Search Ills and Conditions Women's Health Men's Health Senior Health ... Self-Care Centers Go To Premera Home Provider Directory Preferred Drug List Cool Tools ... Health A-Z You are here: Home Galactosemia Galactosemia Lica, Lorraine Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and death. Description Galactosemia is a rare but potentially life-threatening disease that results from the inability to metabolize galactose. Serious consequences from galactosemia can be prevented by screening newborns at birth with a simple blood test. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all chemical reactions that take place in living organisms. A metabolic pathway is a series of reactions where the product of each step in the series is the starting material for the next step. Enzymes are the chemicals that help the reactions occur. Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow the enzymes to function properly. Sugars are sometimes called "the energy molecules," and galactose and glucose are both sugars. For galactose to be utilized for energy, it must be transformed into something that can enter the metabolic pathway that converts glucose into energy (plus water and carbon dioxide). This is important for infants because they typically get most of their nutrient energy from milk, which contains a high level of galactose. Each molecule of lactose, the major sugar constituent of milk, is made up of a molecule of galactose and a molecule of glucose, and so galactose makes up 20% of the energy source of a typical infant's diet.

82. Health Library - Galactosemia galactosemia. Synonyms Disorder Subdivisions General Discussion Resources Twovariants of the gene for galactosemia have been identified. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

83. Health Library - Galactosemia Testing galactosemia Testing. Test Overview. galactosemia is a rare inherited (genetic)disease caused by a lack of the enzyme galactose transferase. http://www.laurushealth.com/library/healthguide/medicaltests/topic.asp?hwid=hw76

84. Galactosemia | AHealthyAdvantage You are here Home Ills Conditions galactosemia, galactosemia. Lica, Lorraine. 2148Bryton Dr., Powell OH 43065. http//www.galactosemia.org/index.htm. http://lifewise.ahealthyadvantage.com/topic/galactosemia

You are here: Home Galactosemia Galactosemia Lica, Lorraine Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and death. Description Galactosemia is a rare but potentially life-threatening disease that results from the inability to metabolize galactose. Serious consequences from galactosemia can be prevented by screening newborns at birth with a simple blood test. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all chemical reactions that take place in living organisms. A metabolic pathway is a series of reactions where the product of each step in the series is the starting material for the next step. Enzymes are the chemicals that help the reactions occur. Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow the enzymes to function properly. Sugars are sometimes called "the energy molecules," and galactose and glucose are both sugars. For galactose to be utilized for energy, it must be transformed into something that can enter the metabolic pathway that converts glucose into energy (plus water and carbon dioxide). This is important for infants because they typically get most of their nutrient energy from milk, which contains a high level of galactose. Each molecule of lactose, the major sugar constituent of milk, is made up of a molecule of galactose and a molecule of glucose, and so galactose makes up 20% of the energy source of a typical infant's diet.

85. Galactosemia galactosemia. galactosemia Resources and Information galactosemia Resourcesand Information Home Page General Info Foods galactosemia. http://www.health-nexus.org/galactosemia.htm

Health-Nexus.Com Health-Nexus.Net The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Galactosemia Galactosemia Resources and Information Galactosemia Resources and Information Home Page General Info Foods ... Discussion Forum Other Links Connections Welcome to the Galactosemia Resources and Information page. Sign the Guestbook Enter ... Parents of Galactosemic Children, Inc. Home Page info and resources about galactosemia. Ken Herndon's Galactosemia Resources and Information General information and sections for newborn screening, galactose content in foods and a discussion board can be found. galactosemia Galactosemia Galactosemia: An Overview. Galactosemia is an inherited disorder ... independent lives. Dietary Management of Galactosemia. The main goal ... GeneReviews: Galactosemia GeneReviews: Galactosemia [Printable Copy] Galactosemia Summary Diagnosis Clinical...Title Index Full Glossary Galactosemia Funded by the NIH " Developed...University of Washington, Seattle Galactosemia [Classic Galactosemia, GALT...

86. Health Library - Galactosemia Saint Luke's Health System eLibrary. galactosemia. Self Help Clearinghouse.Parents of Galactosemic Children, Inc. National network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

87. Galactosemia (Galactose-1-Phosphate Uridyltransferase Deficiency) galactosemia; galactosemia; Type I galactosemia-I. http://www.bdid.com/galactosemia.htm

HOME Galactosemia (Galactose-1-Phosphate Uridyltransferase Deficiency) UDP-galactose-4-epimerase deficiency Galactosemia GALACTOSEMIA Type I GALACTOSEMIA-I Type II (Galactokinase Deficiency, GALK Deficiency) GALACTOSEMIA-II GALACTOSEMIA II Type III (Galactose Epimerase Deficiency, GALE Deficiency, UDP-Galactose-4-Epimerase Deficiency) GALACTOSEMIA-III GALACTOSEMIA III HOME

88. Health Library Find Information On Galactosemia At MerckSource Find information on galactosemia at MerckSource. Learn more about galactosemia galactosemia.Definition galactosemia is the inability http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

89. Welcome To ENH.org - Health Encyclopedia: Galactosemia galactosemia. Causes, incidence, and risk factors galactosemia is aninherited disorder (transmitted as an autosomal recessive trait). http://www.enh.org/Encyclopedia/ency/article/000366.asp

Disease Reference Injury Reference Test Reference Nutrition Reference ... Symptoms Reference Galactosemia Disease Injury Nutrition Poison ... Z Definition: Galactosemia is the inability of the body to use ( metabolize ) the simple sugar galactose (causing the accumulation of galactose 1-phosphate), which then reaches high levels in the body, causing damage to the liver, central nervous system, and various other body systems. Alternative Names: Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency Causes, incidence, and risk factors: Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). It occurs at a rate of approximately 1 out of 60,000 births. There are 3 forms of the disease galactose-1 phosphate uridyl transferase deficiency (classic galactosemia) and deficiency of galactose kinase or galactose-6-phosphate epimerase. Of these, the galactose-1-phosphate transferase deficiency is the most severe (and more common). People with galactosemia are unable to fully metabolize the simple sugar galactose. Galactose makes up half of the sugar, called lactose, that is found in milk. Lactose is called a disaccharide (di meaning 2 and saccharide meaning sugar) since lactose is made up of two sugars, galactose and glucose, bound together.

90. Galactosemia | BluePrint For Health You are here Home Ills Conditions galactosemia,galactosemia. Lica, Lorraine. http://blueprint.bluecrossmn.com/topic/galactosemia

Search COMPLEMENTARY CARE Acupuncture Massage therapy Fitness centers ... SITE AWARDS You are here: Home Galactosemia Galactosemia Lica, Lorraine Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and death. Description Galactosemia is a rare but potentially life-threatening disease that results from the inability to metabolize galactose. Serious consequences from galactosemia can be prevented by screening newborns at birth with a simple blood test. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all chemical reactions that take place in living organisms. A metabolic pathway is a series of reactions where the product of each step in the series is the starting material for the next step. Enzymes are the chemicals that help the reactions occur. Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow the enzymes to function properly. Sugars are sometimes called "the energy molecules," and galactose and glucose are both sugars. For galactose to be utilized for energy, it must be transformed into something that can enter the metabolic pathway that converts glucose into energy (plus water and carbon dioxide). This is important for infants because they typically get most of their nutrient energy from milk, which contains a high level of galactose. Each molecule of lactose, the major sugar constituent of milk, is made up of a molecule of galactose and a molecule of glucose, and so galactose makes up 20% of the energy source of a typical infant's diet.

91. Emory Genetics Lab, GALACTOSEMIA galactosemia. INDICATIONS, Summary. This test is performed on patients diagnosedwith galactosemia, as well relatives at risk to carry the gene. http://www.emory.edu/WHSC/GENETICSLAB/dna/galact.htm

GALACTOSEMIA INDICATIONS Click here for Gene Reviews Clinical Summary This test is performed on patients diagnosed with galactosemia, as well relatives at risk to carry the gene. Testing is done by PCR based mutational analysis, compared against positive and negative controls. This test is recommended after or in conjunction with biochemical GALT enzyme analysis. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood For DNA analysis only: 2 ml whole blood in an EDTA (purple top) or ACD ( yellow top ) tube in patients 0-2 years of age. In patients over 2 years of age, collect 5 ml whole blood in an EDTA (purple top) or ACD ( yellow top ) tube. For both DNA and GALT enzyme analysis: 5 ml whole blood in a sodium heparin (green top) tube for patients 0-2 years of age, and 10 ml whole blood in a sodium heparin (green top) tube for patients over 2 years of age. Refrigerate until time of shipment (up to 4 days) and deliver at room temperature to arrive the same day. SAMPLES ACCEPTED: Monday - Friday, 8:00 am - 4:30 pm. TURN-AROUND-TIME: 2 weeks.

92. Emory Genetics Lab, GALACTOSEMIA galactosemia. Infants born with classic galactosemia require lifelong dietaryrestriction of galactose, while variant galactosemia patients may not. http://www.emory.edu/WHSC/GENETICSLAB/biochem/gal.htm

GALACTOSEMIA INDICATIONS Click here for Gene Reviews Clinical Summary This test excludes galactosemia (transferase deficiency) and is indicated in the case of abnormal newborn screening results, or in the presence of symptoms of galactosemia. Infants born with classic galactosemia require lifelong dietary restriction of galactose, while variant galactosemia patients may not. To customize treatment early, in order to enhance the quality of life, Emory Genetics Laboratory has developed a three-tier approach in a positive newborn screened patient: 1. Determine biochemical phenotype (Gal-1-P-uridyltransferase enzyme activity, isozyme pattern, and Gal-1-P concentration) 2. Determine molecular genotype (identify specific mutation causing the condition) 3. From genotype-phenotype correlations, provide nutritional therapy aimed at the specific genotype and predicted nutritional requirements, to ensure the highest quality of life for affected patients Carrier testing for galactosemia is accomplished by looking at GALT, isozyme, and DNA. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Whole Blood 3-5 ml of blood in sodium heparin (green top) tube. Refrigerate.

93. Qango : Health: Diseases And Conditions: G: Galactosemia Qango Directory galactosemia all of Qango only this category Options Help. Home Health Diseases and Conditions G galactosemia, Suggest a Site. Health, etc. http://www.qango.com/dir/Health/Diseases_and_Conditions/G/Galactosemia/

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Galactosemia all of Qango only this category Options Help Home Health ... G > Galactosemia Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... G > Galactosemia Suggest a Site Home Suggest a Site Search ... Login

94. Galactosemia encyclopediaEncyclopedia galactosemia, gulak tusE'mEu PronunciationKey. galactosemia , inherited metabolic disorder caused by an http://www.infoplease.com/ce6/sci/A0820008.html

Reduce your family medical costs by up to 60% now! Oral health..Save up to 60% on dental care. Easy Medical Diagnosis..stop smoking! All Infoplease All Almanacs General Entertainment Sports Biographies Dictionary Encyclopedia Infoplease Home Almanacs Atlas Dictionary ... Fact Monster Kids' reference Info:Daily Fun facts Homework Center Newsletter You've got info! Help Site Map Visit related sites from: Family Education Network Encyclopedia galactosemia [g u u s E E u Pronunciation Key galactosemia , inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. The disorder is manifested soon after birth by feeding problems and diarrhea. Galactose is accumulated principally in the liver of the newborn infant, where it may induce cirrhosis, and in the lens of the eye, where cataracts may develop. Low glucose levels cause sufficient hypoglycemia to affect the central nervous system with resulting mental retardation. These ill effects can be prevented by removing milk and all other foods containing galactose and lactose from the diet. galactic coordinate system Galahad, Sir

95. BioMed Central Abstract The Clinical And Molecular Spectrum The clinical and molecular spectrum of galactosemia in patients from the Cape Townregion of South Africa Howard Henderson 1 , Felicity Leisegang 1 , Ruth http://www.biomedcentral.com/1471-2431/2/7/abstract

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