41. Galactosemia - Medical Dictionary Definitions Of Popular Medical Terms galactosemia A genetic metabolic disease in which there is a defect in the body s ability to use the sugar galactose. In classic http://www.medterms.com/script/main/art.asp?articlekey=3535

42. Galactosemia galactosemia. galactosemia Resources and Information galactosemia Resources and Information Home Page General Info Foods galactosemia. http://www.health-nexus.com/galactosemia.htm

Health-Nexus.Net Health-Nexus.Org 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...

43. AllRefer Health - Galactosemia (Galactokinase Deficiency, Galactose-1-Phosphate galactosemia (Galactokinase Deficiency, Galactose1-Phosphate Uridyl Transferase Deficiency, Galactose-6-Phosphate Epimerase Deficiency) information center http://health.allrefer.com/health/galactosemia-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Galactosemia Galactosemia Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Galactokinase Deficiency, Galactose-1-Phosphate Uridyl Transferase Deficiency, Galactose-6-Phosphate Epimerase Deficiency 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. Galactosemia 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).

44. Galactosemia galactosemia. galactosemia is a rare, inherited genetic disorder. galactosemia may be mild or severe. The disorder is diagnosed with a blood test. http://www.meritcare.com/hwdb/_followLink.asp?sgml_id=stg124243

45. ::: Intercientífica.com :::::::::::::::::: Translate this page galactosemia. A galactosemia é causada quando a criança não pode digerir o açúcar encontrado no leite. Esta condição leva http://www.intercientifica.com.br/tri_gala.htm

Galactosemia G-6-PD Biotinidase AIDS Toxoplasmose ... Hemoglobinopatias GALACTOSEMIA A Galactosemia * Dados obtidos da American Liver Foundation

46. HealthCentral - General Encyclopedia - Galactosemia galactosemia. Causes, incidence, and risk factors galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). http://www.healthcentral.com/mhc/top/000366.cfm

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47. Galactosemia galactosemia is a rare but potentially tragic disease that kills very young babies. However......galactosemia. Definition galactosemia http://www.chclibrary.org/micromed/00048850.html

Main Search Index Definition Description Causes ... Resources Galactosemia Definition Galactosemia is an inherited disease where 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 tragic disease that kills very young babies. However, thanks to an understanding of the root of the problem, infant death from galactosemia can be prevented by giving simple tests to newborns. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all the 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. Because of energy barriers, essentially none of the reactions in organisms occur at any measurable rate unless a catalyst (a compound that affects the rate of a chemical reaction) is present. Most catalysts in organisms, including those required for the transformation of galactose to glucose in humans, are enzymes (large protein molecules). 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 defective genes.

48. Newborn Screening Program - Galactosemia galactosemia. Definition. Infants with galactosemia are started on milk substitute formula, most likely a lactosefree soybean protein formula. 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.

49. Galactosemia Largescale molecular screening for galactosemia alleles in a pan-ethnic population. 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

50. Galactosemia galactosemia, Splenomegaly; Cataracts; Mental retardation. Labs galactosemia; Erythrocyte Galactose1-Phosphate uridyl transferase Activity diminished. http://www.fpnotebook.com/END90.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Galactosemia Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Inborn Errors of Metabolism Inborn Error of Small Molecule Metabolism Epidemiology Identified in newborn period Pathophysiology Autosomal recessive trait Galactose-1-Phosphate Uridyl Transferase Deficiency Failure to convert galactose to glucose Results in fatty Cirrhosis of the liver Symptoms Presentation follows milk ingestion after days to weeks

51. Galactosemia Diseases, Conditions and Injuries. galactosemia. by Michelle Badash, MS. Definition Organizations Definition. Classic galactosemia is an inherited disease. http://www.somersetmedicalcenter.com/1424.cfm

Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries Galactosemia by Michelle Badash, MS Definition Causes Risk Factors ... Organizations Definition Classic galactosemia is an inherited disease. Due to a defective gene, there is a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This enzyme is necessary for the conversion of galactose to glucose. Galactose is a simple sugar found in milk products. (The main sugar in milk is called lactose. It is made up of two simple sugars: galactose and glucose.) Glucose is the usable form of sugar in the human body. Normally, the body converts galactose into glucose, which it then uses for energy. In galactosemia, galactose builds up in the blood. A buildup of galactose can cause severe damage to the liver, kidneys, central nervous system, and other body systems. If undetected, galactosemia is fatal. A less severe form of this disease is Duarte galactosemia (also called galactokinase deficiency). This type may be managed with a few dietary restrictions. It does not carry the risk of neurologic or liver damage. However, the eye lens may be damaged, which can lead to cataracts This fact sheet describes classic galactosemia.

52. Diet For Infants With Galactosemia And Information diet for infants with galactosemia. Lot of info about diet for infants with galactosemia. Copyright 2003 info about diet for infants with galactosemia. http://www.pretty-diets-online.com/diet-for-infants-with-galactosemia/diet-for-i

diet for infants with galactosemia Lot of info about diet for infants with galactosemia If you need more info about diet for infants with galactosemia then visit link below Make("Click here to read more about diet"); Go to main page diet aids Make("diet information");

53. Galactosemia Cancer. Caroli Disease. Cirrhosis. CoInfections. Fatty Liver. galactosemia. Glycogen Storage Disease. Hemangioma. Hepatitis A. Hepatitis B. Hepatitis C. Hepatitis D. http://www.liversociety.org/html/galactosemia.html

American Liver Society 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. What is it Diagnosis Symptoms Treatment ... Legal

54. Galactosemia- Medcohealth.com galactosemia is the inability of the body to use (metabolize) the simple sugar galactose (causing the accumulation of galactose 1phosphate), which then http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?ltSess=y&articl

55. Health Library - galactosemia. Synonyms Disorder Subdivisions General Discussion Resources Two variants of the gene for galactosemia have been identified. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

56. Galactosemia galactosemia. galactosemia is caused by an inborn lack of an enzyme that is vital to this conversion process of galactose to glucose. 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.

57. Galactosemia Articles, Support Groups, And Resources galactosemia articles, support groups, and resources for patients from Med Help International (www.medhelp.org). galactosemia. Medical Glossary galactosemia. http://www.medhelp.org/HealthTopics/Galactosemia.html

[Health Topics A-Z] A B C D ... Z Galactosemia Medical Glossary: GALACTOSEMIA [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 6/2/2004

58. GALACTOSEMIA galactosemia A rare genetic (autosomal recessive) disorder characterized by the inability to break down galactose (a sugar derived from milk lactose). http://www.medhelp.org/glossary2/new/GLS_2149.HTM

GALACTOSEMIA - A rare genetic ( autosomal recessive ) disorder characterized by the inability to break down galactose (a sugar derived from milk lactose Med Help Home Search Ask the Doctor ... Patient Network The medical glossary has been made possible by a generous donation from:

59. Galactosemia : NCS Assays From PerkinElmer galactosemia, The incidence of galactosemia is 114000 – 160000. The untreated disorder will cause poor development, and in the worst case fatality. http://las.perkinelmer.com/catalog/Category.aspx?CategoryName=Galactosemia

60. Galactosemia Self Help Clearinghouse. galactosemia. Sparks, NV 89436 CALL 775626-0885 E-MAIL mesameadow@aol.com WEBSITE www.galactosemia.org VERIFIED 5/27/2003. http://www.bchealthguide.org/kbase/shc/shc29gal.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29gal"; var hwDocTitle="Galactosemia"; var hwRank="1"; var hwSectionHWID="shc29gal"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse 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 the 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

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