41. Galactosemia: Definition And Much More From Answers.com ga·lac·to·se·mi·a ( g?lak t?-se me-? ) n. An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the. http://www.answers.com/topic/galactosemia

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Dictionary Medical Term Encyclopedia Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping galactosemia Dictionary ga·lac·to·se·mi·a gə-lăk tə-sē mē-ə n. An inherited metabolic disorder characterized by the deficiency of an enzyme that is necessary for the metabolism of galactose. The disorder results in elevated levels of galactose in the blood and, if untreated, can lead to mental retardation and eye and liver abnormalities. ga·lac to·se mic adj. Medical Term Galactosemia A genetic metabolic disease in which there is a defect in the body's ability to use the sugar galactose. In classic galactosemia, the basic defect is a deficiency of the enzyme known as GALT (galactose-1-phosphate uridyl transferase). This causes an accumulation of galactose 1-phosphate which damages the liver, eye, brain and kidney. Galactosemia is one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet. Galactosemia is inherited as an autosomal recessive trait. There are two forms of the disease, GALT deficiency (classic galactosemia) and galactose kinase deficiency. Of the two, the GALT deficiency is the most severe. The GALT gene is in chromosome 9p13.

42. Newborn Screening Case Management - Galactosemia galactosemia (galac-to-se-me-a) is a rare hereditary condition caused by the body s inability to breakdown galactose (a sugar found in milk and milk http://www.dshs.state.tx.us/newborn/galac_1.shtm

@import url(/css/hhss.css); /*IE and NN6x styles */ skip to: page content sidebar navigation header navigation footer navigation ... Newborn Screening In Texas Screened Disorders: Congenital Adrenal Hyperplasia Congenital Hypothyroidism Galactosemia Phenylketonuria ... Sickle Cell Disease Other Areas of Interest: Practitioner's Guide Consultants Publications Order Form Radio PSAs ... Viewing Information External links to other sites are intended to be informational and do not have the endorsement of the Texas Department of State Health Services. These sites may also not be accessible to people with disabilities. Newborn Screening Case Management Galactosemia What is Galactosemia? - Galactosemia (ga-lac-to-se-me-a) is a rare hereditary condition caused by the body's inability to breakdown galactose (a sugar found in milk and milk products). En Español ¿Qué es la Galactosemia? - La galactosemia es una enfermedad hereditaria rara, causada por la incapacidad del cuerpo para transformar la galactosa (un azúcar que se encuentra en la leche y productos de leche). The Galactosemia Brochure (49.4KB) is available in both English and Spanish in pdf format.

43. Galactosemia Definition - Medical Dictionary Definitions Of Popular Medical Term Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=3535

44. ► Galactosemia A medical encycopedia article on the topic galactosemia. http://www.umm.edu/ency/article/000366.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; 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.

45. Articles From LEAVEN: To Breastfeed Or Not: PKU, Galactosemia, Other Rare Disord PKU, galactosemia, Other Rare Disorders and Possible Misdiagnosis galactosemia is also a metabolic enzyme deficiency/absence condition which is http://www.lalecheleague.org/llleaderweb/LV/LVAugSep98p78.html

HOME What's New About LLLI Catalogue ... Contact LLLI 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.

46. Borderline Galactosemia Borderline galactosemia. By Rama Ganesan Blacksburg VA USA The condition of severe galactosemia occurs once in 40000 60000 infants. http://www.lalecheleague.org/NB/NBJulAug97p123.html

HOME What's New About LLLI Catalogue ... Contact LLLI 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.

47. Galactosemia Facts A fact sheet that briefly describes galactosemia in infants and young children, its symptoms, treatments, and general outcomes. meta NAME= 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

48. Galactosemia General Overview Frequently asked questions about galactosemia that briefly describes the body’s normal metabolic process, the effects and most common treatments for 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?

49. Galactosemia Unit Classical galactosemia is a hereditary autosomal recessive disorder Most cases of galactosemia are due to partial deficiency or complete absence of the http://www.michigan.gov/mdch/0,1607,7-132-2945_5103_5277-14741--,00.html

Skip Navigation Michigan.gov Home MDCH Home Sitemap ... Contact MDCH document.form2.SearchCriteria.size=10; HIPAA Institutional Review Board Information for Medicaid Providers Lab Services ... [Text Version] 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.

50. Utah Newborn Screening also known as heelstick or heel stick. Topics include PKU, blood spot, galactosemia, sickle cell, hemoglobinopathies and congenital hypothyroidism. http://www.health.utah.gov/newbornscreening/Galactosemia.htm

Galactosemia Fact Sheets for Parents Medical Newsletters What causes the condition? The body cannot break down a certain sugar (galactose) found mostly in dariy products How often does it occur? One in 50,000 newborns What happens if it's not treated? Children become very sick (and may die). Mental retardation, cataracts and liver damage are possible. How is it treated? A special diet health.utah.gov Home Utah.gov Accessibility Policy

51. Galactosemia galactosemia Resource contains an overview of the condition, galactosemia Resources and Information - links and brief snippets of information. 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

52. Galactosemia - NewbornScreening.Com galactosemia is caused when a baby cannot digest sugar found in milk. galactosemia is an elevation of blood galactose levels. http://www.newbornscreening.com/cms/Galactosemia.shtml

Home Page All News About Newborn Screening Condition Profiles Discussion Forum Lab Profiles UPDATED Choose from the below list. Australia Japan India Philippines -US States Alabama Alaska Arizona Arkansas California Colorado Connecticut Delaware Florida Georgia Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Lousiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennessee Texas Utah Vermont Virginia Washington D.C. Washington State West Virginia Wisconsin Wyoming Public Health News Galactosemia Condition: Galactosemia "Galactosemia is caused when a baby cannot digest sugar found in milk. The condition leads to cataracts, liver damage, mental retardation and usually death. Substituting a special formula for milk starting in the first weeks of life helps to avoid these problems" - Vermont Newborn Screening Technical information from the Mountain States Genetic Network: Galactosemia is an elevation of blood galactose levels. It may be due to a deficiency of any of the three enzymes of the galactose catabolic pathway: galactose-1-phosphate uridyltransferase (Gal-1-PUT), galactokinase, or UDP-galactose-4-epimerase. Clinically, deficiency of galactose-1-phosphate uridyltransferase (Gal-1-PUT) has become synonymous with classic galactosemia. This autosomal recessive disorder occurs with an incidence of approximately 1:40-60,000 in the general population. The symptoms can be severe in infancy and may lead to death or severe neurologic damage if not recognized and treated.

53. Galactosemia galactosemia is a rare (160000 births) autosomal recessive inherited galactosemia is caused by an inborn lack of an enzyme that is vital to this http://www.drhull.com/EncyMaster/G/galactosemia.html

Help for sleepless parents Encyclopedia Index G galactosemia Search galactosemia Galactosemia is a rare (1:60,000 births) autosomal recessive inherited disease caused by an inherited lack of an enzyme responsible for processing milk sugar in the body. Milk sugar - lactose - consists of a glucose molecule joined to a galactose molecule. It is first split into the two molecules, and then the galactose molecule is normally converted to glucose and utilized. Galactosemia is caused by an inborn lack of an enzyme that is vital to this conversion process of galactose to glucose. As soon as the baby begins to ingest large amounts of lactose in its milk, galactose builds up in the bloodstream. This rapidly results in liver damage with jaundice, clotting abnormalities and bleeding disorders, and hypoglycemia, as well as kidney damage and cataracts of the eyes. Many state laboratories (if not all) screen all newborns for galactosemia at birth when the PKU test is performed. Treatment of galactosemia is straightforward once identified - the elimination of milk sugar (lactose) from the diet. Babies are fed either soy-based formula or one of the newer lactose-free formulas.

54. Galactosemia National network. Founded 1985. Information and mutual support for parents of galactosemic children. 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 XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library 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. Information and mutual support for parents of galactosemic children. Newsletter, literature, pen pals, conferences, and phone support, online message board. 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: 5/3/2005 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, 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 on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

55. Galactosemia Test galactosemia testing checks the sugar galactose or enzymes needed for galactose breakdown in a blood 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 XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... Credits Galactosemia Test Test Overview A galactosemia test is a blood or urine test that checks for three enzymes that are needed to change galactose, a sugar that is found in milk and milk products, into glucose, a sugar that your body uses for energy. A person with galactosemia doesn't have one of these enzymes. This causes high levels of galactose in the blood or urine. When galactose builds up in a baby's blood, it can cause brain damage, seizures, and mental retardation. The damage caused by galactosemia can begin within weeks after the baby has started drinking breast milk or formula. Babies with galactosemia need foods low in galactose in order to gain weight and to prevent brain damage, liver problems, infection, and cataracts Galactosemia is a rare disease that is passed from parents to children ( inherited genetic disorder ). A galactosemia test is usually done to determine whether a newborn has the disease. Testing is also done on adults to determine whether they have an increased chance of having a child with the disease.

56. Galactosemia galactosemia Updated April 4, 2004 What is galactosemia? Texas Department of Health Article available in bilingual PDF File; What is galactosemia? http://www.noah-health.org/en/genetic/conditions/galactosemia.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Genetic Diseases Change text size: Galactosemia Updated: April 4, 2004 Frequently Asked Questions Parents of Galactosemic Children Galactose in Foods Parents of Galactosemic Children Galactosemia Texas Department of Health Galactosemia: An Overview University of Washington Galactosemia GeneClinics.com Galactosemia Handbook: A Guide for Parents Texas Department of Health Information for the Newly Diagnosed Parents of Galactosemic Children Schedule of Assessments for Galactosemia Texas Department of Health Teacher's Guide to Galactosemia Texas Department of Health Unacceptable Ingredients Parents of Galactosemic Children What is Galactosemia? Texas Department of Health What is Galactosemia? Parents of Galactosemic Children Parents of Galactosemic Children Researched by NOAH Contributing Editor: NOAH Team NOAH Genetic Diseases Specific Conditions > Galactosemia Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

57. Search Result For "Galactosemia" NOAH pages containing galactosemia . Displaying 15 of 6. galactosemia Frequently Asked Questions; Galactose in Foods; galactosemia; galactosemia An http://www.noah-health.org/search/results.php?lang=1&keyword=Galactosemia&dtype=

58. Galactosemia Biotinidase Deficiency Congenital Adrenal Hyperplasia Fatty Acid Oxidation Disorders galactosemia Hemoglobinopathies Hypothyroidism http://www.uhl.uiowa.edu/services/mychildshealth/newborn/disorders/galactosemia.

Testing and Services News Room Contact Us About UHL ... Site Map Search Quick Links Well Water Today's Air Quality Disease / Infection / Illness Info Environmental Info Kits / Quotes / Forms Results Interpretation Laboratory Certification Terrorism and Emergency Response Amino Acid Disorders Biotinidase Deficiency Congenital Adrenal Hyperplasia Fatty Acid Oxidation Disorders ... Disorders Galactosemia Babies born without a certain enzyme cannot break down the milk sugar, called galactose. As galactose builds up in the blood stream, life-threatening complications to the brain and liver can occur as early as the first week of life. With early diagnosis and placing the baby on a special milk-free diet, these problems can be prevented. This inherited disorder occurs in about 1 in every 70,000 births. Web Master Site Map

59. Galactosemia Largescale molecular screening for galactosemia alleles in a pan-ethnic Risk factors for premature ovarian failure in females with galactosemia. http://www.thedoctorsdoctor.com/diseases/galactosemia.htm

Background This is a rare inherited disorder of metabolism. There are two main variants, classic and Duarte. It is inherited as an autosomal recessive trait, meaning both parents must carry the defective gene. Galactose is a sugar, commonly formed when lactose, found in dairy products such as milk, cheese, butter, is broken down into galactose and glucose. In these patients, the enzyme normally responsible for metabolizing galactose is deficient or missing. This results in an accumulation of galactose which may infiltrate various organs including the liver and the lens. Over time, progressive liver and kidney failure may occur. Cataracts may occur. Progressive neurologic deterioration may also occur. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing ... Internet Links EPIDEMIOLOGY CHARACTERIZATION GEOGRAPHY Galactosaemia in black South African children. Ojwang PJ, Manickum T, Deppe WM. Department of Chemical Pathology, Faculty of Medicine, University of Natal, Durban, South Africa. East Afr Med J 1999 May;76(5):247-50 Abstract quote

60. Galactosemia. The Columbia Encyclopedia, Sixth Edition. 2001-05 galactosemia. The Columbia Encyclopedia, Sixth Edition. 200105. http://www.bartleby.com/65/ga/galactsem.html

Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia Cultural Literacy World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations Respectfully Quoted English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference Columbia Encyclopedia PREVIOUS NEXT ... BIBLIOGRAPHIC RECORD The Columbia Encyclopedia, Sixth Edition. galactosemia (g l s KEY ) , 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.

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