21. Http//www.aap.org/policy/01565.html http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Galactosemia / Family Village Library Learn More About It * Web Sites * Search Google for galactosemia Web http//www.galactosemia.org/. Parents of Galactosemic Children, http://www.familyvillage.wisc.edu/lib_gala.htm

Galactosemia Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Galactosemia" Who to Contact Parents of Galactosemic Children 885 Del Sol Street Sparks, NV 89436 E-mail: mesameadow@aol.com Web: http://www.galactosemia.org/ Parents of Galactosemic Children, Inc is a non-profit, national organization. Founded in February 1975 by a small group of mothers in New York, PGC realizes the need for further information and networking between affected families and professionals. Metabolic Clinics across the nation continue to assist PGC in researching families and information. Today our mailing list includes over 1000 families and extended families, professionals and clinics, media groups, donors, and Canadian and overseas contacts. Objectives and functions are achieved on an all-volunteer basis. Where to Go to Chat with Others Galactosemia Web Board Liver Children Children's Liver Alliance List FOR FAMILIES Dedicated to empowering the hearts and minds of children with liver disease, their families and the medical professionals who care for them. Open to all families, friends and medical professionals who have an interest in pediatric liver disease and transplantation. Diseases include Alagille's Syndrome, Alpha-1 Antitrypsin Deficiency, Biliary Atresia, Crigler-Najjar, Cystic Fibrosis (liver affected), Galactosemia, Glycogen Storage Diseases, Hepatitis, Tyrosinemia, Wilson's Disease, Primary Sclerosing Cholangitis, and any other PEDIATRIC liver disease.

23. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Background Hereditary galactosemia is among the most common carbohydrate metabolism Causes Classic galactosemia is caused by a severe deficiency in http://www.emedicine.com/ped/topic818.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Last Updated: July 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: GALT, galactosemia, GALT deficiency, galactose diabetes AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: George A Anadiotis, DO , Consulting Staff, Department of Pediatric Rehabilitation and Development, Division of Clinical and Biochemical Genetics, Emmanuel Children's Hospital Coauthor(s): Gerard T Berry, MD , Professor of Pediatrics and Biochemistry, Pediatrics, Thomas Jefferson University George A Anadiotis, DO, is a member of the following medical societies: American Medical Association , and American Society of Human Genetics Editor(s): Robert D Steiner, MD

24. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Background Hereditary galactosemia is among the most common Pathophysiology galactosemia is associated with the following 3 enzyme deficiencies http://www.emedicine.com/ped/byname/galactose-1-phosphate-uridyltransferase-defi

(advertisement) Excerpt from Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Synonyms, Key Words, and Related Terms: GALT, galactosemia, GALT deficiency, galactose diabetes Please click here to view the full topic text: Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Background: Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period. First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common enzyme deficiency that causes galactosemia. Removing lactose largely eliminates the toxicity associated with newborn disease, but long-term complications routinely occur, as reported by Komrower and Lee in 1970 and then delineated in a 1990 retrospective survey by Waggoner and associates. Pathophysiology: Galactosemia is associated with the following 3 enzyme deficiencies: Galactokinase converts galactose to galactose-1-phosphate and is not a common deficiency. Uridine diphosphate (UDP) galactose-4-epimerase epimerizes UDP galactose to UDP glucose and also is uncommon.

25. Galactosemia - Genetics Home Reference Where can I find additional information about galactosemia? What other names do people use What if I still have specific questions about galactosemia? http://ghr.nlm.nih.gov/condition=galactosemia

Home What's New Browse Handbook ... Search Galactosemia Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Galactosemia On this page: What is galactosemia? How common is galactosemia? ... help with understanding galactosemia? What is galactosemia? Galactosemia is a disorder that affects how the body processes certain sugars (sugar metabolism). This condition results when the body is not able to process the sugar galactose, which is found in many foods. Galactose also exists as part of another sugar, lactose, found in all dairy products. Liver dysfunction, cataracts (clouding of the lens of the eye), speech problems, and mental impairment are characteristic of this condition if not treated. How common is galactosemia? Classic galactosemia is an inherited disorder that occurs in approximately 1 in 30,000 live births. The incidence of the Duarte variant, a mild type of galactosemia, is more common. This variant affects an estimated 1 in 16,000 live births. What genes are related to galactosemia?

26. Newborn Screening Program - Galactosemia galactosemia is an inherited defect of galactose metabolism caused by an enzyme In Illinois, newborn screening for galactosemia is designed to detect 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 70 cases of classical galactosemia, 170 carriers and 80 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.

27. Galactosemia - DrGreene.com Read about a serious condition found in routine newborn screening. http://www.drgreene.com/21_1097.html

QUICK SEARCH A - Z Guide ADHD Allergy Care Guide Allergies Asthma Care Guide Asthma Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Environmental Health Genetics Infectious Diseases Medical Treatment Mental Health Multimedia Library Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Children's Health Topic Centers Contact Us Professional Resources Dr. Greene's Welcome Analytical Chemistry Business: Healthcare Cardiology Clinical Pharmacology Clinical Trials Mgmt Cosmetic Surgery Dermatology Diabetes Drug Discovery Emergency Medicine Endocrinology Family Practice Gastroenterology Geriatrics HIV/AIDS Infectious Disease Internal Medicine Managed Care Neurology Nursing Ob/Gyn Oncology Ophthalmology Orthopedics Pediatrics Pharma Marketing Pharma Sales Pharma Science/Tech Pharmacy Psychiatry Pulmonology Radiology Residents / Students Rheumatology Surgery Urology Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards Dr. Greene´s Chats

28. 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. Children with galactosemia are missing an http://www.drgreene.com/21_77.html

QUICK SEARCH A - Z Guide ADHD Allergy Care Guide Allergies Asthma Care Guide Asthma Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Environmental Health Genetics Infectious Diseases Medical Treatment Mental Health Multimedia Library Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Children's Health Topic Centers Contact Us Professional Resources Dr. Greene's Welcome Analytical Chemistry Business: Healthcare Cardiology Clinical Pharmacology Clinical Trials Mgmt Cosmetic Surgery Dermatology Diabetes Drug Discovery Emergency Medicine Endocrinology Family Practice Gastroenterology Geriatrics HIV/AIDS Infectious Disease Internal Medicine Managed Care Neurology Nursing Ob/Gyn Oncology Ophthalmology Orthopedics Pediatrics Pharma Marketing Pharma Sales Pharma Science/Tech Pharmacy Psychiatry Pulmonology Radiology Residents / Students Rheumatology Surgery Urology Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards Dr. Greene´s Chats

29. Galactosemia CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, 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.

30. A Closer Look At Galactosemia galactosemia is a rare genetic disorder that can cause severe damage, even death, to children who consume milk or dairy products. http://www.dfps.state.tx.us/Adoption_and_Foster_Care/About_Our_Children/galactos

DFPS Home Adoption And Foster Care About Our Children A closer look at Galactosemia previous page Galactosemia is a rare genetic disorder that can cause severe damage, even death, to children who consume milk or dairy products. Galactosemia should not be confused with lactose intolerance, which is an allergic reaction some children get from dairy products. Galactosemia is a condition that can cause complications such as an enlarged liver, kidney failure, cataracts, and brain damage. Diagnosis is usually made shortly after birth as a standard part of newborn screening. However, even though a restricted diet is started right away, there continues to be a high incidence of complications involving speech and language, fine and gross motor skill delays, and specific learning disabilities. Galactosemia means too much galactose in the blood due to absence of an enzyme that converts galactose into glucose. If the galactose is converted to glucose, it is used by the body for energy. However, when the galactose isn't converted into glucose, it accumulates in the body as a poison. Galactosemia occurs in children when both the mother and the father carry the defective gene. Incidence of the disease is about one in 20,000 births. Children with galactosemia must be prevented from consuming any milk, cheese, or milk products, including lactose additives in other foods. Parents must be careful readers of the ingredients on food, including processed foods in cans or dry packages.

31. Introduction: Classic Galactosemia - WrongDiagnosis.com Introduction to Classic galactosemia as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/c/classic_galactosemia/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Classic galactosemia Next sections Basic Summary for Classic galactosemia Symptoms of Classic galactosemia Glossary for Classic galactosemia Next chapters: Fructosuria Fragile-X Syndrome Huntington's Disease Myotonic Dystrophy ... Feedback Introduction: Classic galactosemia Classic galactosemia: Rare serious genetic defect in galactose metabolism. Researching symptoms of Classic galactosemia: Further information about the symptoms of Classic galactosemia is available including a list of symptoms of Classic galactosemia , or alternatively return to research other symptoms in the symptom center Contents for Classic galactosemia: Basic Summary for Classic galactosemia Symptoms of Classic galactosemia Glossary for Classic galactosemia Diseases Did we miss something? Please provide feedback or suggestions By using this site you agree to our . Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our

32. Introduction: Galactosemia - WrongDiagnosis.com Introduction to galactosemia as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/g/galactosemia/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Galactosemia Next sections Basic Summary for Galactosemia Types of Galactosemia Treatments for Galactosemia Doctors and Medical Specialists for Galactosemia ... Articles about Galactosemia Next chapters: Classic galactosemia Fructosuria Fragile-X Syndrome Huntington's Disease ... Feedback Introduction: Galactosemia Galactosemia: Rare genetic defects in galactose metabolism. Galactosemia: Galactosemia, a rare genetic disorder, hampers the body's ability to process the sugar galactose. An infant with this disorder may appear normal at birth, but after a few days or weeks of drinking milk (which contains galactose), the child may begin to vomit, lose weight, and develop cataracts. The liver may fail to release stored glycogen into the blood, triggering hypoglycemia. Removing milk from the diet is the usual treatment. Treatments for Galactosemia: Various information is available about treatments available for Galactosemia , or research treatments for other diseases.

33. Galactosemia Testing First Abnormal galactosemia Screen with reduced enzyme activity, but normal total Invalid galactosemia Screen because the infant was probably transfused http://www.genetics.missouri.edu/Galactosemia.htm

Galactosemia Newborn Screening Results Protocol University of Missouri Health Care Important numbers: Dawn Peck, MS (Metabolic Genetic Counselor) Phone:573-884-5192 FAX: 573-884-3543 I. Normal Galactosemia Screen II. First Abnormal Galactosemia Screen with reduced enzyme activity, but normal total galactose levels III. Second Abnormal Galactosemia Screen with reduced enzyme, but normal total galactose IV. Abnormal Galactosemia Screen with reduced enzyme and elevated total galactose ... VIII. Invalid Galactosemia Screen because the infant was probably transfused I. Normal Galactosemia Screen: Results: Normal Galactose-1-Phosphate Uridyl Transferase activity (GALT) Interpretation No indication of a defect in galactose metabolism Remember, for a valid result, the infant must have been on a milk/lactose formula or breast milk for 24 hours. Recommendation: None II. First Abnormal Galactosemia Screen with reduced enzyme activity, but normal total galactose levels: Results: Reduced Galactose-1-Phosphate Uridyl Transferase activity (GALT) Interpretation: This is a "borderline result" with only a reduced Galactose-1-Phosphate Uridyl Transferase. This

34. 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 Web health.allrefer.com 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).

35. AllRefer Health - Galactosemia - Inborn Errors Of Metabolism: Pictures & Images galactosemia Inborn Errors of Metabolism (Branched Chain Ketoaciduria - Nutritional Considerations, Fructose Intolerance - Nutritional Considerations, http://health.allrefer.com/health/inborn-errors-of-metabolism-galactosemia.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump Alcohol and Diet Athletic Performance Balanced Diet Breastfeeding Calcium in Diet Calories in Diet Carbohydrates Child Age Appropriate Diet Cholesterol Diabetes Diet Diet and Disease Fast Foods Fat Folic Acid (Folate) Food Hygiene Heart Disease and Diet Hyperactivity and Sugar Irradiated Foods Iron in Diet Niacin Normal Growth Potassium in Diet Protein in Diet Sodium and Diet Traveling with Children Vegetarianism Vitamins Water in Diet Zinc in Diet 70+ More Nutrition Topics Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Inborn Errors of Metabolism : Galactosemia Inborn Errors of Metabolism Alternate Names : Branched Chain Ketoaciduria - Nutritional Considerations, Fructose Intolerance - Nutritional Considerations, Galactosemia - Nutritional Considerations, Maple Sugar Urine Disease (MSUD) - Nutritional Considerations, Phenylketonuria (PKU) - Nutritional Considerations Galactosemia An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to the liver, central nervous system and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions.

36. Galactosemia Medical Information galactosemia Information from Drugs.com. galactosemia is the inability of the body to use (metabolize) the simple sugar galactose (causing the http://www.drugs.com/enc/galactosemia.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Galactosemia Injury Disease Nutrition Poison ... Galactosemia Galactosemia 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 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, the most common and most severe form), deficiency of galactose kinase, and deficiency of galactose-6-phosphate epimerase. People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. Lactose is called a disaccharide (di meaning 2 and saccharide meaning sugar) because it is made up of two sugars, galactose and glucose, bound together.

37. Dr. Koop - Galactosemia galactosemia is the inability of the body to use () the simple sugar galactose (causing the accumulation of galactose 1phosphate), which then reaches high http://www.drkoop.com/ency/93/000366.html

Home Health Reference Galactosemia Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Galactosemia Injury Disease Nutrition Poison ... Prevention Galactosemia 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, the most common and most severe form), deficiency of galactose kinase, and deficiency of galactose-6-phosphate epimerase. People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. Lactose is called a disaccharide (di meaning 2 and saccharide meaning sugar) because it is made up of two sugars, galactose and glucose, bound together.

38. Dr. Koop - Galactosemia An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to the liver, http://www.drkoop.com/ency/93/ImagePages/17187.html

Home Health Reference Galactosemia Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Galactosemia An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to the liver, central nervous system and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions. New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks Disabled/Special Needs Drug Abuse Ear/Nose/Throat Eating/Appetite Eczema Encephalitis Eye/Vision Fatigue Fever Flu Food Poisoning Foot Gallbladder Gastrointestinal Genetic/Congenital GERD/Heartburn Hair Loss Hair/Scalp Headache Hearing Heart Disease, Stroke

39. Galactosemia galactosemia III is caused by defects in the gene that codes for an enzyme called uridyl Vermont Newborn Screening Program galactosemia. http://www.healthatoz.com/healthatoz/Atoz/ency/galactosemia.jsp

40. Galactosemia - Wikipedia, The Free Encyclopedia In individuals with galactosemia, GALT activity is severely diminished, Without treatment, mortality in infants with galactosemia is about 75%. http://en.wikipedia.org/wiki/Galactosemia

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Galactosemia From Wikipedia, the free encyclopedia. Galactosemia Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT ( galactose-1-phosphate uridylyltransferase ). In individuals with galactosemia, GALT activity is severely diminished, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver renal failure cataracts , and brain damage . Without treatment, mortality in infants with galactosemia is about 75%. Goppert first described the disease in 1917. Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan Contents Types Diagnosis Treatment Reference ... edit Types There are two variants of the gene responsible for galactosemia. One variant causes so-called

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 96    Back | 1  | 2  | 3  | 4  | 5  | Next 20