21. GeneReviews: Galactosemia Your browser does not support HTML frames so you must view galactosemia in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/galactosemia/

Your browser does not support HTML frames so you must view Galactosemia in a slightly less readable form. Please follow this link to do so.

22. Www.icondata.com/health/pedbase/files/GALACTO1.HTM galactosemia Información general - Translate this page galactosemia - Información general. http://www.icondata.com/health/pedbase/files/GALACTO1.HTM

23. Lactose, Ovarian Failure, And Galactosemia - DrGreene.com - Caring For The Next Pediatric expert Dr. Alan Greene explains that galactosemia is a metabolic disease that causes ovarian failure. Lactose, Ovarian Failure, And galactosemia. http://www.drgreene.com/21_77.html

QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health Lactose, Ovarian Failure, And Galactosemia What’s galactosemia and how is it related to ovarian failure? Galactosemia is a metabolic disease that can cause ovarian failure. Children with galactosemia are missing an enzyme needed to process a sugar called galactose. This is found in the diet primarily in

24. Galactosemia Back Home Next. galactosemia. galactosemia galactosemia Resource contains an overview of the condition, foods to avoid, links, and more. http://www.ability.org.uk/Galactosemia.html

Our Aims Services Stats ... Z Galactosemia Galactosemia Galactosemia Resource - contains an overview of the condition, foods to avoid, links, and more. Galactosemia Resources and Information - links and brief snippets of information. Parents of Galactosemic Children Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

25. Galactosemia Unit Print. galactosemia Unit. fatal. Most cases of galactosemia are due to partial deficiency or complete absence of the enzyme, Gal1-PUT. http://www.michigan.gov/mdch/0,1607,7-132-2945_5103_5277-14741--,00.html

Skip Navigation Michigan.gov Home MDCH Home Sitemap ... Substance Abuse Providers Galactosemia Unit ENZYME TEST: GALACTOSE-1-PHOSPATE URIDYL TRANSFERASE Galactose-1-phosphate uridyl transferase (Gal-1-PUT) is one of the enzymes necessary to convert galactose-1-phosphate into glucose-1-phosphate. A decrease or lack of the enzyme will cause an elevated galactose level in the bloodstream. Classical galactosemia is a hereditary autosomal recessive disorder characterized by seizures, mental retardation, cataracts, and can be fatal. Most cases of galactosemia are due to partial deficiency or complete absence of the enzyme, Gal-1-PUT. Screening for the Gal-1-PUT enzyme in newborns is important for the early diagnosis and treatment of this disorder. If Gal-1-PUT deficiency is detected, infants should be placed on lactose free diets. PRINCIPLES OF THE TEST The procedure manufactured by Perkin-Elmer Wallac, Inc . is an adaptation of the Beutler and Baluda procedure. The assay is based on the enhancement of the fluorescence of NADPH through a series of enzymatic reactions. This is a quantitative method that measures the enzyme galactose -1-phosphate uridyl transferase. TOTAL GALACTOSE Galactose is a sugar formed from dietary lactose. It is converted to galactose-1-phosphate and other metabolites by several enzymes, especially phosphogalactose uridyl transferase. A decrease or lack of the enzyme will cause elevated galactose and galactose-1-phosphate levels in the bloodstream.

26. Galactosemia - Information / Diagnosis / Treatment / Prevention home neurological disorders brain diseases metabolic galactosemia galactosemia. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/neurological-disorders/brain-diseases/metabolic/

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... metabolic > galactosemia Galactosemia Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Genetic Disorders Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "galactosemia" Health News: Search millions of published articles for news on Galactosemia Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: National Library of Medicine: GALC The alternate names, a summary and list of major features of galactocerebrosidase deficiency. NORD - Galactosemia Offers the synonyms, a general discussion and further resources. Parents of Galactosemic Children, Inc.

27. Galactosemia . galactosemia is a rare but potentially lifethreatening disease that results from the inability to metabolize galactose....... galactosemia. Definition. http://www.healthatoz.com/healthatoz/Atoz/ency/galactosemia.html

Encyclopedia Index G Home Encyclopedia Encyclopedia Index G Galactosemia 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.

28. Borderline Galactosemia Borderline galactosemia. A severe galactosemic patient, on the other hand, has two copies of the gene for galactosemia, and has little or no enzyme. http://www.lalecheleague.org/NB/NBJulAug97p123.html

HOME What's New About LLLI Product Catalog ... Local Contacts 1400 N. Meacham Road, Schaumburg, IL 60173-4808 USA (847) 519-7730 NEW BEGINNINGS Articles Infant/Child Breastfeeding Issues Allergies Biting Colic Dental Health and Teething ... Weight Issues (Child) Borderline Galactosemia By Rama Ganesan Blacksburg VA USA From: NEW BEGINNINGS, Vol. 14 No. 4, July-August 1997, pp. 123-24 When my son, Jayanth, was born, I had not anticipated the problems I would have nursing him, nor the strength of my desire to do so. Jayanth did not latch on well, and his blood sugar level was very low. We taught him to nurse over the first few weeks, during which time he received supplements of formula. By about six weeks we had learned to become an effective nursing couple. He began to refuse the formula supplements and became exclusively breastfed. At this point the hospital informed us that one of Shubha's test results was questionable, and that the test had to be repeated. The result indicated that Shubha may have insufficient quantities of the enzyme that metabolized galactose. Galactose is the sugar that is obtained from the lactose in milk, and the enzyme that metabolizes this sugar is found mainly in the red blood cells. When galactose is not metabolized, it will reach high levels in the blood and become toxic, causing cataracts in the eyes, damage to the liver and kidneys, and brain damage. The galactosemic baby will fail to thrive on breast milk or formula based on cow's milk. The treatment for this condition is to remove all sources of lactose from the baby's diet and give soy formula.

29. Articles From LEAVEN: To Breastfeed Or Not: PKU, Galactosemia, Other Rare Disord To Breastfeed or Not PKU, galactosemia, Other Rare Disorders and Possible Misdiagnosis. Chris Hafner galactosemia. galactosemia is http://www.lalecheleague.org/llleaderweb/LV/LVAugSep98p78.html

HOME What's New About LLLI Product Catalog ... Local Contacts 1400 N. Meacham Road, Schaumburg, IL 60173-4808 USA (847) 519-7730 LEAVEN INDEX Specific Problems and Research Articles Book Reviews Common ConcernsHealthy Mothers and Babies ... Valued Advertisers To Breastfeed or Not: PKU, Galactosemia, Other Rare Disorders and Possible Misdiagnosis Chris Hafner-Eaton Corvallis, Oregon, USA From: LEAVEN, Vol. 34 No. 4, August-September 1998, pp. 78-79 A Leader receives a call from a mother whose doctor has told her she must stop breastfeeding because her child has a rare disorder. The mother has never heard of the disease and is heartbroken to learn that she must stop nursing. Medical details often become buried in emotions. This article addresses some of the issues surrounding a mother's decision to breastfeed and how a Leader can present information to her without giving medical advice. A Leader needs to take extra care to record details about pregnancy, complications of pregnancy/labor, medications (baby and mother), birth weight, number of feedings in 24 hours, any supplements given, number of wet/soiled diapers, weight lost/gained, preliminary diagnosis, etc. The Medical Questionnaire Form (No. 91 from LLLI) can guide a Leader in taking such a history.

30. ► Galactosemia galactosemia. Causes, incidence, and risk factors galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). http://www.umm.edu/ency/article/000366.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (English) Toggle English Spanish Galactosemia Overview Symptoms Treatment Prevention 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.

31. Galactosemia MAIN SEARCH INDEX. galactosemia. galactosemia is a rare but potentially lifethreatening disease that results from the inability to metabolize galactose. http://www.ehendrick.org/healthy/000566.htm

MAIN SEARCH INDEX Galactosemia 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.

32. Galactosemics.org Old Posts, Adults with galactosemia Discussions related to adults with galactosemia. New Posts, Discussions about Duarte galactosemia This forum is for general http://www.galactosemics.org/forums/

Galactosemics.org Home Profile Register Active Topics ... FAQ Username: Password: Save Password Forgot your Password? Change Category Group Select Other Categories Here! All Categories you have access to Main Categories Group Category Menu Main Categories Topics Posts Last Post Moderator(s) General galactosemia discussions General discussions This area is for general discussions related to Galactosemia. 6:22:16 PM by: kmalyn malynj Newly diagnosed children This section is for parents to talk about their newly diagnosed children, and to get answers to their questions. 10:36:53 AM by: Sarah H kmalyn malynj Adults with galactosemia Discussions related to adults with galactosemia. 9:04:41 PM by: Stacey Taylor kmalyn malynj Discussions about Duarte Galactosemia This forum is for general discussions on Duarte Galactosemia 11:50:34 AM by: JoyceF kmalyn malynj Health related issues Please feel free to discuss calcium, cateracts, ovarian failure, tremors and any other health concerns. 10:10:29 AM by: Jean kmalyn malynj Learning problems and speech delays This is for the discussion of learning problems and speech delays related to galactosemia. 11:52:14 AM by: Jean kmalyn malynj Conferences and conference notes This section is for discussions about galactosemia conferences, and for posting notes from recent conferences.

33. Galactosemics.org Collapse This Category General galactosemia discussions, Old Posts, Adults with galactosemia Discussions related to adults with galactosemia. http://www.galactosemics.org/forums/default.asp?CAT_ID=2

34. Galactosemia Testing galactosemia Testing Test Overview galactosemia testing checks the sugar galactose or enzymes needed for galactose breakdown in a blood or urine sample. http://my.webmd.com/hw/raising_a_family/hw7694.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 ... Credits Galactosemia Testing Test Overview Galactosemia testing checks the sugar galactose or enzymes needed for galactose breakdown in a blood or urine sample. High levels of galactose or the absence of the enzymes indicate the presence of galactosemia. A galactosemia test is usually done to determine whether a newborn has the disease. Testing may also be done on expectant parents who might transfer the disease to their baby. Galactosemia testing checks for: The presence of the enzyme galactose transferase. For this test, several drops of blood are placed on a specially treated paper and viewed under an ultraviolet light. Normal blood glows; blood that lacks the enzyme does not glow. High amounts of the sugar galactose. For this test, several drops of blood are placed on specially treated paper and exposed to a certain type of bacteria that is needed for galactose to grow. Normal blood will not grow bacteria; blood from a baby with galactosemia forms bacterial growth around it.

35. Galactosemia Organizations. Parents of Galactosemic Children, Inc. galactosemia Parents of Galactosemic Children, Inc. National network. Founded 1985. http://my.webmd.com/hw/health_guide_atoz/shc29gal.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 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 ... Parents of Galactosemic Children, Inc. Galactosemia Parents of Galactosemic Children, Inc. National network. Founded 1985. Mutual support for parents of galactosemic children. Newsletter, literature, pen pals, conferences, and phone support. WRITE: Parents of Galactosemic Children c/o Evelyn Rice 885 Del Sol St. Sparks, NV 89436 CALL: 775-626-0885 E-MAIL: mesameadow@aol.com WEBSITE: www.galactosemia.org VERIFIED: 5/27/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

36. Newborn Screening - Galactosemia galactosemia (Updated 04/30/04). galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. http://www.health.state.mo.us/Lab/NewbornScreenGAL.htm

Your browser does not support script What's New Missouri Department of State Public Health Laboratory P.0. Box 570 307 West McCarty Jefferson City, Missouri 65102 Newborn Screening Galactosemia (Updated 04/30/04) Galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. The genetic disorder is transmitted as an autosomal recessive disease. Galactose is a breakdown product of lactose, which is most commonly found in milk products. When galactose cannot be broken down, it builds up in the cells and becomes toxic. If not diagnosed and treated it can lead to diarrhea, dehydration, jaundice, hepatic failure, hypoglycemia, cataracts, developmental retardation and death. Sepsis due to E. coli seems to be particularly frequent among galactosemic neonates and is usually the cause of death. Treatment of the disease consists of withdrawal of all foods containing lactose and galactose from the diet. Prevalence in Missouri: Analyte Measured: *Total Galactose Galactose-1-Phosphate Uridyl Transferase NOTE: Total Galactose = Free Galactose + Galactose-1-Phosphate Reporting Results: Normal: The final newborn screening reports are mailed to the submitter and physician of record.

37. Galactosemia Newborn Genetic Testing Home Newborn Genetic Screening Full Medical Reports galactosemia galactosemia. galactosemia is caused by http://gslc.genetics.utah.edu/units/newborn/infosheets/galactosemia.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Full Medical Reports Galactosemia Galactosemia Galactosemia is caused by the lack of an enzyme in the liver necessary for the breakdown of galactose. Galactose is the product of digested lactose, which is found in milk products. Symptoms include lethargy, diarrhea, vomiting, seizures, cataracts, susceptibility to infections, jaundice, mental retardation and liver disease. Genetics Galactosemia is caused by disruption of the galactose-1-phosphate uridyl transferase (GALT) gene on chromosome 9. More than 130 mutations in the GALT gene have been associated with galactosemia. Some mutations occur more commonly in particular ethnic groups and result in variable severity of the disorder. Inheritance Autosomal recessive. Incidence 1 in 50,000 - 80,000 for classic galactosemia and 1 in 16,000 for other forms of galactosemia. Diagnosis without genetic screening The symptoms of galactosemia appear early in infants, often leading to diagnosis. Jaundice, diarrhea, vomiting and failure to gain weight begin within a few days of milk ingestion. Cataracts appear within a few days of birth. Clinical outcome without screening and treatment If not detected early, galactosemia can result in severe liver disease and mental retardation. There is a high frequency of death at one to two weeks of age from severe bacterial infections.

38. Galactosemia Facts galactosemia Primary Defect Deficiency in enzymes that help convert galactose into glucose. The body cannot use galactose directly. http://www.doh.wa.gov/EHSPHL/PHL/Newborn/galactosemia.htm

You are here: DOH Home EHSPHL Home PHL Home NBS Home »Galactosemia Fact Sheet Search Employees Galactosemia Primary Defect Deficiency in enzymes that help convert galactose into glucose. The body cannot use galactose directly. Screening Test Fluorescent assay for enzyme activity Typically followed by measurement of galactose if reduced activity is detected Genetic (autosomal recessive) Occurs in about 1 in 50,000 births If Untreated Jaundice, vomiting, lethargy, hepatosplenomegaly, cataracts and failure to thrive leading to liver failure, sepsis. Often fatal Therapy Galactose free diet for life with strict avoidance of lactose (milk sugar) and lactose containing foods. With Treatment Mortality avoided if detected in time; improved IQ if treated early but typically in the low end of normal; speech and learning disabilities are common; ovarian failure for most females. DOH Home Access Washington Privacy Notice Washington State Department of Health Newborn Screening Program 1610 NE 150th Street NE Shoreline, Washington, 98155

39. Galactosemia General Overview What should I know about galactosemia? Below are some frequently asked questions. Q. What is galactosemia? A. galactosemia is a treatable disorder. http://www.doh.wa.gov/EHSPHL/PHL/Newborn/galgo.htm

You are here: DOH Home EHSPHL Home PHL Home NBS Home »Galactosemia General Overview Page Search Employees Site Directory: Galactosemia General Overview Page Disorders Health Professional's Page Parents Page Related Links ... Contact NBS What should I know about Galactosemia? Related Links pages or contact us with your specific question. (click here for printer friendly version of this information in pdf format) Please see the viewer page for free software to enable viewing of pdf files. What is Galactosemia? How does the body normally process galactose? What happens to galactose in a child with galactosemia? What are the effects of having galactosemia if it is not treated? ... How common is galactosemia? Q. What is Galactosemia? A. Galactosemia is a treatable disorder. It affects the way the body processes the sugar galactose, a component of milk and dairy products. Children with galactosemia cannot process galactose. As a result, galactose and other by-products build up in the bloodstream and cause physical and developmental damage. Q. How does the body normally process galactose?

40. CLF : Galactosemia galactosemia What is galactosemia? galactosemia is breakdown). What causes galactosemia? galactosemia is hereditary. To http://www.liver.ca/english/liverdisease/galactosemia.html

CLF Regional Offices Find a Location BC/Yukon Alberta Saskatchewan Manitoba GTA S.W. Ontario Central Ontario S.E. Ontario Quebec Atlantic Can. GALACTOSEMIA What is galactosemia? Galactosemia is a rare hereditary disease that can lead to cirrhosis in infants, and early, devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown). What causes galactosemia? Galactosemia is hereditary. To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1 in 20,000 live births. For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency. Because of the potentially disastrous effects of late diagnosis, many states have mandatory neonatal screening programs for galactosemia. What are the symptoms of galactosemia? The disease usually appears in the first few days of life following the ingestion of breast milk or formula. Vomiting, liver enlargement, and jaundice are often the earliest signs of the disease, but bacterial infections (often severe), irritability, failure to gain weight, and diarrhea may also occur. If unrecognized in the newborn period, the disease may produce liver, brain, eye and kidney damage. How is galactosemia diagnosed?

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