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

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22. Galactosemia galactosemia is a disorder in which the metabolization of galactose into glucoseis blocked, resulting in increased levels of galactose in the body. http://www.csmd.ca/galactosemia.htm

Galactosemia Home Up Phenylketonuria [ Galactosemia ] Cystinosis Gaucher's Disease Urea Cycle Disorders Glycogen Storage Disorders ... Hereditary Tyrosinemia Galactosemia is a disorder in which the metabolization of galactose into glucose is blocked, resulting in increased levels of galactose in the body. If untreated, toxic levels of galactose can eventually lead to brain damage or even death. www.galactosemia.dynip.com - a galactosemia resource website. Return to " How many are there? "

23. Hereditary Fructose Intolerance galactosemia, Splenomegaly; Cataracts; Mental retardation. Labs galactosemia;Erythrocyte Galactose1-Phosphate uridyl transferase Activity diminished. http://www.fpnotebook.com/END84.htm

Home About Links Index ... Editor's Choice Paid Advertisement (click above). Please see the privacy statement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Hereditary Fructose Intolerance Book Home Page Cardiovascular Medicine Dental 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 Cardiovascular Medicine 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 Pathophysiology Intolerance to fructose or sucrose Symptoms (follows sucrose or fructose exposure) Vomiting Hypoglycemia Seizure s Coma Hepatomegaly (see Hepatomegaly in Newborns Jaundice (Direct

24. MEDLINEplus Medical Encyclopedia: Galactosemia galactosemia. Causes, incidence, and risk factors Return to top. galactosemiais an inherited disorder (transmitted as an autosomal recessive trait). http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Galactosemia Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Galactosemia Alternative names Return to top Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency Definition Return to top 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. Causes, incidence, and risk factors Return to top 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.

25. MEDLINEplus Enciclopedia Médica: Galactosemia Translate this page galactosemia. La galactosemia es una condición de por vida, por lo que el pacientedebe evitar el consumo de estos productos durante toda la vida. http://www.nlm.nih.gov/medlineplus/spanish/ency/article/000366.htm

Omita y vaya al Contenido Otros enciclopedia temas: A-Ag Ah-Ap Aq-Az B-Bk ... Z Galactosemia Contenido: Nombres alternativos Definición Causas, incidencia y factores de riesgo Síntomas ... Galactosemia Nombres alternativos Volver al comienzo Deficiencia de galactosa-1-fosfatouridil transferasa; deficiencia de galactocinasa; deficiencia de galactosa-6-fosfato epimerasa Definición Volver al comienzo Es la incapacidad del organismo para utilizar ( metabolizar ) el azúcar simple galactosa (que causa la acumulación de galactosa 1 fosfato), que alcanza altos niveles en el organismo y causa lesiones al hígado, el sistema nervioso central y otros varios sistemas corporales. Causas, incidencia y factores de riesgo Volver al comienzo La galactosemia es una enfermedad hereditaria, transmitida como una característica autosómica recesiva y cuya incidencia es aproximadamente de 2 de cada 100.000 nacimientos. Existen dos formas de la enfermedad: deficiencia de galactosa-1-fosfatouridil transferasa y deficiencia de galactosa quinasa. La primera es la forma más grave de la enfermedad. Las personas que padecen la galactosemia no toleran ninguna forma de leche (humana ni de ningún otro tipo), ya que el azúcar de la leche, lactosa (un disacárido), está formada por partes iguales de glucosa y galactosa. La exposición a la leche genera niveles tóxicos de galactosa en el niño que conduce al desarrollo de daño hepático, formación de

26. Galactosemia Back Home Next. galactosemia galactosemia. galactosemia Resource containsan 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

27. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Galactose1-Phosphate Uridyltransferase Deficiency (galactosemia) - Hereditary galactosemiais among the most common carbohydrate metabolism disorders and can http://www.emedicine.com/ped/topic818.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Last Updated: May 21, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: 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, Department of Pediatrics, Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia and University of Pennsylvania 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

28. Galactosemia Cystinuria. galactosemia. Gaucher Disease. Glycogen Storage Disease. Urea CycleDefects. galactosemia. This area will soon contain updated information. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_galactosemia.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Adreno-leukodystrophy ... Cystinuria Galactosemia Gaucher Disease Glycogen Storage Disease Homocystinuria Maple Syrup Urine Disease ... Urea Cycle Defects Galactosemia This area will soon contain updated information. Please see the resources section for other sites of interest. About VHHSC Reaching Out Patient Info Health Professionals ... Employment Info

29. Newborn Screening Program On Galactosemia galactosemia. What is it? galactosemia (GuhLAK-toe-SEE-me-ah) is adisease in which galactose cannot be broken down in the body. http://www.hhs.state.ne.us/nsp/Newborn2.htm

Galactosemia What is it? Galactosemia (Guh-LAK-toe-SEE-me-ah) is a disease in which galactose cannot be broken down in the body. Galactose is a simple sugar found in breast milk, many formulas, and milk products. Children with Galactosemia cannot break down the galactose, so it remains at high levels in their body. The effects of these high levels can harm a child's eyes, liver, and brain. About 1 in 4 infants with untreated Galactosemia develop serious infections in the first or second week of life. This damage can be prevented by placing the child on a special diet within the first few days of life. My child had an abnormal test. What do I do now? An abnormal test does not necessarily mean that your child has Galactosemia. But the only way to make sure is to have a "confirmatory test." This test is more specific than the first test and can give your doctor more information. The first thing to do is to get your child retested as soon as possible. If your child does have Galactosemia, damage and death can be prevented if it is found and treatment started within the first few days of life. Until the confirmatory test results have been received, the child should be taken off breast milk or regular formulas and be placed on a non-lactose formula, such as soy. How is Galactosemia treated?

30. Newborn Screening Program - Galactosemia galactosemia. Definition. Infants with galactosemia are started on milk substituteformula, 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.

31. 1Up Health > Galactosemia > Causes, Incidence, And Risk Factors Of Galactosemia Comprehesive information on galactosemia (Galactokinase deficiency, Galactose1-phosphateuridyl transferase deficiency, Galactose-6-phosphate epimerase http://www.1uphealth.com/health/galactosemia_info.html

1Up Health Galactosemia Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Galactosemia Information Galactosemia Causes, Incidence, and Risk Factors Alternative 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. 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.

32. Avera Health - Galactosemia galactosemia. Definition Causes, incidence, and risk factors galactosemiais an inherited disorder (transmitted as an autosomal recessive trait). http://www.avera.org/adam/ency/article/000366.htm

Disease Injury 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, 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. If an infant with galactosemia is given milk, derivatives of galactose builds up in the infants system causing damage to the liver, brain, kidneys, and eyes. Individuals with galactosemia cannot tolerate any form of milk (human or animal), or must carefully watch intake of other galactose-containing foods. Exposure to milk products may result in liver damage, mental retardation

33. Avera Health - Galactosemia Translate this page galactosemia. Definición Es la incapacidad del organismo para utilizar(metabolizar) el azúcar simple galactosa (que causa la http://www.avera.org/adam/esp_ency/article/000366.htm

Enfermedades Lesiones Nutrici³n Envenenamiento ... Prevenci³n Galactosemia Definici³n: Es la incapacidad del organismo para utilizar ( metabolizar ) el azºcar simple galactosa (que causa la acumulaci³n de galactosa 1 fosfato), que alcanza altos niveles en el organismo y causa lesiones al h­gado, el sistema nervioso central y otros varios sistemas corporales. Nombres alternativos: Deficiencia de galactosa-1-fosfatouridil transferasa; deficiencia de galactocinasa; deficiencia de galactosa-6-fosfato epimerasa Causas, incidencia y factores de riesgo: La galactosemia es una enfermedad hereditaria, transmitida como una caracter­stica autos³mica recesiva y cuya incidencia es aproximadamente de 2 de cada 100.000 nacimientos. Existen dos formas de la enfermedad: deficiencia de galactosa-1-fosfatouridil transferasa y deficiencia de galactosa quinasa. La primera es la forma m¡s grave de la enfermedad. Las personas que padecen la galactosemia no toleran ninguna forma de leche (humana ni de ningºn otro tipo), ya que el azºcar de la leche, lactosa (un disac¡rido), est¡ formada por partes iguales de glucosa y galactosa. La exposici³n a la leche genera niveles t³xicos de galactosa en el ni±o que conduce al desarrollo de da±o hep¡tico, formaci³n de cataratas y lesi³n cerebral.

34. Health Care Professionals' Guide To Newborn Screening - Galactosemia galactosemia. Autosomal recessive disorder of galactose metabolism.The genetic disturbance is expressed as a cellular deficiency http://www.slh.wisc.edu/newborn/guide/galactosemia.shtml

Galactosemia Autosomal recessive disorder of galactose metabolism. The genetic disturbance is expressed as a cellular deficiency of either galactokinase, galactose-1-phosphate uridyl transferase or uridine diphosphate galactose 4 epimerase - the enzymes catalyzing the reaction by which galactose is converted to glucose. The main dietary source of galactose is lactose, the principle carbohydrate in milk. Prevalence (WI): Analyte Measured: Free Galactose Galactose-1-Phosphate Uridyl-1-transferase Reporting Ranges: 13 mg/dL Total Galactose NOTE: Total Galactose = Free Galactose + Galactose-1-Phosphate. Qualitative uridyl-1-transferase (UT) measurements are performed on the highest 5% of the daily total galactose levels. If no UT activity is observed, the infant is reported as galactosemic regardless of total galactose value. Feeding Effect: Minimal (See COMMENT below) Timing Effect: 24 hours of age: Results are valid Confirmation: Repeat newborn screen.

35. GALACTOSEMIA Translate this page Déficit en galactosa-1-fosfato uridiltransferasa. Trabajo realizado porDiana García López para la asignatura de Biocomputación en el. http://www.angelfire.com/tx5/orion_121/gal.html

Déficit en galactosa-1-fosfato uridiltransferasa Trabajo realizado por Diana García López para la asignatura de Biocomputación en el curso académico 2001/2002 Mayo 2002

36. Galactosemia Liver Genetic Diseases. galactosemia. galactosemia is a hereditary disease thatcan lead to cirrhosis of the liver. galactosemia What is galactosemia? http://jhhs.client.web-health.com/web-health/topics/GeneralHealth/generalhealths

37. Galactosemia galactosemia. galactosemia is caused by an inborn lack of an enzyme thatis 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.

38. Galactosemia . galactosemia is a rarebut 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.

39. Galactosemia Unit Print. galactosemia Unit. fatal. Most cases of galactosemia are due topartial 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.

40. Short Description Of Cell Lines. Pathology: Galactosemia *230400 Version 4.200205, Short description of cell lines. Pathology galactosemia*230400 OMIM record. By selecting the cell line name, you http://www.biotech.ist.unige.it/cldb/pat14.html

Version Short description of cell lines. Pathology: galactosemia OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser CHP 3 human, Black skin, fibroblast IZSBS ... By Beatrice...

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