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

62. Health Library - Galactosemia Testing galactosemia Testing. Test Overview. galactosemia is a rare inherited (genetic)disease caused by a lack of the enzyme galactose transferase. http://yalenewhavenhealth.org/Library/HealthGuide/MedicalTests/topic.asp?hwid=hw

63. A To Z Encyclopedia Topic: Galactosemia Metabolism Program. Unfortunately, at this time, we are not able toprovide information about this condition or procedure. However http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Galactosemia

64. POF Support Group: Galactosemia And Turners Syndrome galactosemia AND TURNERS SYNDROME. Parents of Galactosemic Children, Inc. 2871 StageCoach Drive Valley Springs, California 95252 http//www.galactosemia.org. http://www.pofsupport.org/linkgts.htm

Home Contact Us Site Map Calendar GALACTOSEMIA AND TURNERS SYNDROME Parents of Galactosemic Children, Inc. 2871 Stage Coach Drive Valley Springs, California 95252 http://www.galactosemia.org Turner's Syndrome Society of the United States 1313 SE Fifth Street, Suite 327 Minneapolis, MN 55414 http://www.turner-syndrome-us.org Infertility Adoption Donor Egg / IVF ... Miscellaneous Would you like to submit a link for us to include in this resource list? email resources@pofsupport.org © 1997-2002 POF Support Group Website Design donated by Opleon Innovations

65. Viasalus / Enciclopedia / Translate this page La galactosemia es una enfermedad hereditaria, transmitida como una característicaautosómica recesiva y cuya incidencia es aproximadamente de 2 de cada http://www.viasalus.com/vs/B2C/cn/enciclopedia/ESP/ency/article/000366.jsp

66. Galactosemia 2. galactosemia (disorder of carbohydrate metabolism) a) Biochemical defect deficiencyof galactose1-phosphate uridyl transferase; accumulation of galactose-1 http://kobiljak.msu.edu/CAI/Pathology/Toxic_F/Toxic_3b3.html

2. Galactosemia (disorder of carbohydrate metabolism) a) Biochemical defect: deficiency of galactose-1-phosphate uridyl transferase; accumulation of galactose-1-phosphate; galactosuria and presumed hypergalactosemia b) Clinical expression: mental retardation c) Therapy: galactose-free diet d) Pathological Characteristics -no lysosomal storage in neurons -non-specific changes with neuronal loss and gliosis Previous Section Course Index Section Index Next Section

67. Galactosemia MAIN SEARCH INDEX galactosemia. galactosemia is a rare but potentially lifethreateningdisease that results from the inability to metabolize galactose. http://www.hendrickhealth.org/healthy/000566.htm

MAIN SEARCH INDEX Galactosemia Definition Description Causes and symptoms Diagnosis ... Resources Definition Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea , lethargy, low blood sugar, brain damage, jaundice , liver enlargement, cataracts , susceptibility to infection, and death Description Galactosemia is a rare but potentially life-threatening disease that results from the inability to metabolize galactose. Serious consequences from galactosemia can be prevented by screening newborns at birth with a simple blood test. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all chemical reactions that take place in living organisms. A metabolic pathway is a series of reactions where the product of each step in the series is the starting material for the next step. Enzymes are the chemicals that help the reactions occur. Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow the enzymes to function properly. Sugars are sometimes called "the energy molecules," and galactose and glucose are both sugars. For galactose to be utilized for energy, it must be transformed into something that can enter the metabolic pathway that converts glucose into energy (plus water and carbon dioxide). This is important for infants because they typically get most of their nutrient energy from milk, which contains a high level of galactose. Each molecule of lactose, the major sugar constituent of milk, is made up of a molecule of galactose and a molecule of glucose, and so galactose makes up 20% of the energy source of a typical infant's diet.

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

Encyclopedia Index G Home Encyclopedia Encyclopedia Index G Galactosemia Definition Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea , lethargy, low blood sugar, brain damage, jaundice , liver enlargement, cataracts , susceptibility to infection, and death Description Galactosemia is a rare but potentially life-threatening disease that results from the inability to metabolize galactose. Serious consequences from galactosemia can be prevented by screening newborns at birth with a simple blood test. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all chemical reactions that take place in living organisms. A metabolic pathway is a series of reactions where the product of each step in the series is the starting material for the next step. Enzymes are the chemicals that help the reactions occur. Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow the enzymes to function properly. Sugars are sometimes called "the energy molecules," and galactose and glucose are both sugars. For galactose to be utilized for energy, it must be transformed into something that can enter the metabolic pathway that converts glucose into energy (plus water and carbon dioxide). This is important for infants because they typically get most of their nutrient energy from milk, which contains a high level of galactose. Each molecule of lactose, the major sugar constituent of milk, is made up of a molecule of galactose and a molecule of glucose, and so galactose makes up 20% of the energy source of a typical infant's diet.

69. Galactosemia | Building Better Health You are here Home Ills Conditions galactosemiaIlls Conditions galactosemia. Lica, Lorraine. http://www.buildingbetterhealth.com/topic/galactosemia

Medical Library Cool Tools Women's Health Men's Health ... Drug Dictionary You are here: Home Galactosemia Lica, Lorraine Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and death. Description Galactosemia is a rare but potentially life-threatening disease that results from the inability to metabolize galactose. Serious consequences from galactosemia can be prevented by screening newborns at birth with a simple blood test. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all chemical reactions that take place in living organisms. A metabolic pathway is a series of reactions where the product of each step in the series is the starting material for the next step. Enzymes are the chemicals that help the reactions occur. Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow the enzymes to function properly. Sugars are sometimes called "the energy molecules," and galactose and glucose are both sugars. For galactose to be utilized for energy, it must be transformed into something that can enter the metabolic pathway that converts glucose into energy (plus water and carbon dioxide). This is important for infants because they typically get most of their nutrient energy from milk, which contains a high level of galactose. Each molecule of lactose, the major sugar constituent of milk, is made up of a molecule of galactose and a molecule of glucose, and so galactose makes up 20% of the energy source of a typical infant's diet.

70. Galactosemia Evaluation (004721) galactosemia Evaluation (004721). CPT Reference Interval Normal activityUse Qualitative newborn screening test for galactosemia. Positive http://www.labcorp.com/datasets/labcorp/html/chapter/mono/sc008800.htm

Galactosemia Evaluation (004721) CPT Synonyms Beutler-Baluda Test; Fluorescent Test for Galactosemia; G-1-PUT; Galactose-1-Phosphate Uridyl Transferase, Qualitative Specimen Whole blood or PKU card spots Volume 1 mL blood or three filled filter paper circles Minimum Volume 0.1 mL blood or one filled filter paper circle Container Green-stopper (sodium or lithium heparin whole blood) tube or PKU card (Schleicher and Scheull No 903) Collection Fill three circles on Schleicher and Schuell No 903 filter paper with a single application of blood from patient finger on heelstick or 0.5 mL heparinized whole blood (green-stopper or capillary tubes). Each circle should be filled with a single application. Areas not saturated to the reverse side are not suitable for assay. Three spots are prepared in case more than one determination is necessary or desired. Do not fill circles on one side and then fill circles on reverse side. Do not collect blood with a capillary tube to apply to filter paper. Air dry specimens at room temperature in a horizontal position for at least 2 hours. Do not use hermetically sealed envelopes. Storage Instructions Causes for Rejection Frozen heparin tube. Filter paper specimen: areas

71. ::: Intercientífica.com :::::::::::::::::: Translate this page galactosemia. A galactosemia é causada quando a criança não podedigerir o açucar encontrado no leite. Esta condição leva a 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

72. Galactosemia For Providers galactosemia. Defects in the galactose metabolic pathway lead to various forms ofgalactosemia, which literally means the presence of galactose in the blood. . http://www.dhs.cahwnet.gov/pcfh/GDB/html/NBS/GalactosemiaforProviders.htm

Primary Care and Family Health GENETIC DISEASE BRANCH GDB Home Page NBS Home Page Comments The California Newborn Screening Program GALACTOSEMIA Galactose is a carbohydrate found in human milk and dairy products. Defects in the galactose metabolic pathway lead to various forms of galactosemia, which literally means "the presence of galactose in the blood." TRANSFERASE DEFICIENCIES a. Classical galactosemia involves a deficiency in the transferase enzyme ( gal actose-1-phosphate uridyl t ransferase, also known as GALT ). This enzyme is found in erythrocytes (red blood cells) and other tissues. The incidence of this disorder in California is It is an autosomal recessive disorder. The Newborn Screening Program is designed to detect this form of galactosemia. In its classical form, there is virtually no detectable transferase activity. Galactose accumulates in the blood and urine; galactose-1-phosphate is present in the erythrocytes and other tissue cells; and galactitol (a galactose metabolite) is found in urine, ocular lenses, and other tissues.

73. MedicinaTV.com: Galactosemia Translate this page Home galactosemia. galactosemia. galactosemia Resource Alimentos,noticias, foros de discusión galactosemia Información acerca http://salud.medicinatv.com/directorio/patologias.asp?id_pat=114

74. Galactosemia Facts galactosemia Primary Defect Deficiency in enzymes that help convertgalactose into glucose. The body cannot use galactose directly. http://www.doh.wa.gov/ehsphl/phl/newborn/galactosemia.htm

You are here: DOH Home EHSPHL Home PHL Home NBS Home ... 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

75. Health Library: All Topics: G: Galactosemia - Healthfinder® healthfinder® home page, healthfinder® — your guide to reliable healthinformation. health library. just for you. health care. organizations. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=335

76. Dr. Alan Greene On Galactosemia Dr. Alan Greene on galactosemia By Alan Greene, MD, FAAP What are someof the longterm concerns for a child born with galactosemia? http://www.americanbaby.com/ab/CDA/featureDetail/0,1349,17734,00.html

search e-mail password don't miss my baby calendar one baby's first year baby illness guide newborn basics ... take a quiz general care newborns premature babies diapering sleep ... parties and celebrations feeding nutrition breastfeeding bottlefeeding solid foods ... weaning health teething illness and prevention allergies colic ... special needs development physical growth behavioral growth intellectual growth first friends from our sponsors Dr. Alan Greene on Galactosemia By Alan Greene, MD, FAAP What are some of the long-term concerns for a child born with galactosemia? What are some of the long-term concerns for a child born with galactosemia, who, at age 2, is seemingly developmentally normal? Galactosemia is one of those conditions where newborn screening has made a huge difference. When babies are identified and treated early by having galactose removed from the diet, many of the serious problems are avoided. The growth problems often disappear as do the kidney and liver problems, and the cataracts often go away so there are no vision problems. However, even with this, some long-term problems can occur. The classic one is a problem with ovarian development in girls, but some kids can also have speech delay or other developmental delays, learning problems, or balance/coordination problems. These won't necessarily be there, but it's important to watch for them throughout childhood and to provide support if they ever appear. These problems do not always correlate well with galactose levels, by the way. Some with excellent control still have them, while some without control don't, but sticking with the diet is still very important.

77. Division Of Chemistry And Toxicology - Galactosemia Unit Division of Chemistry and Toxicology. galactosemia Unit. Most cases of galactosemiaare due to partial deficiency or complete absence of the enzyme, Gal1-PUT. http://www.mdch.state.mi.us/pha/bofl/DivChemTox/GalUt.htm

Division of Chemistry and Toxicology Galactosemia Unit 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. Principles of the Test The procedure manufactured by PerkinElmerWallac, Inc. is a fluormetric assay that simultaneously measures galactose and galactose-1-phosphate. A fluorescent microplate reader and Galactose Test Kit make use of a fluorescent, galactose oxidase method in a microplate format. Enzyme Test: Galactose-1-Phosphate 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 PerkinElmerWallac, Inc.

78. Holly's HomePage galactosemia. About galactosemia galactosemia is a hereditary metabolicdisease where the products of digested lactose can not be metabolized. http://www.enter.net/~hmm4/galac/

Page Links: About Galactosemia Introduction to Metabolism Symptoms in Infants History of Galactosemia Metabolism of Glactose ... Back to Welcome Page Galactosemia About Galactosemia: Galactosemia is a hereditary metabolic disease where the products of digested lactose can not be metabolized. The disorder has an early onset in infancy and has long been associated with milk and breast feeding of infants since lactose is the predominant sugar in milk. Products of lactose digestion are glucose and galactose. Galactose is normally broken down further, but because of a mutated or missing enzyme in the pathway, this metabolite can not be catabolized and accumulates in the body. In some cases of Galactosemia, galactose may be catabolized but the metabolites may remain. The metabolites will also accumulate in the body. The build up of galactose or the metabolites of galactose catabolism can lead to a number of symptoms and eventually death if not treated immediately by removal of galactose from the infant's diet. This page is broken up into several sections.

79. A Closer Look At Galactosemia A closer look at galactosemia. galactosemia is a rare genetic disorder that can causesevere damage, even death, to children who consume milk or dairy products. http://www.tdprs.state.tx.us/Adoption_and_Foster_Care/Special_Features/galactose

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.

80. Galactosemia | Principal Health News galactosemia. Lica, Lorraine. galactosemia is a rare but potentially lifethreateningdisease that results from the inability to metabolize galactose. http://www.principalhealthnews.com/topic/galactosemia

About This Site Registration FAQ Contact Us ... Site Awards You are here: Home Galactosemia Galactosemia Lica, Lorraine Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body. If galactosemia is untreated, high levels of galactose cause vomiting, diarrhea, lethargy, low blood sugar, brain damage, jaundice, liver enlargement, cataracts, susceptibility to infection, and death. Description Galactosemia is a rare but potentially life-threatening disease that results from the inability to metabolize galactose. Serious consequences from galactosemia can be prevented by screening newborns at birth with a simple blood test. Galactosemia is an inborn error of metabolism. "Metabolism" refers to all chemical reactions that take place in living organisms. A metabolic pathway is a series of reactions where the product of each step in the series is the starting material for the next step. Enzymes are the chemicals that help the reactions occur. Their ability to function depends on their structure, and their structure is determined by the deoxyribonucleic acid (DNA) sequence of the genes that encode them. Inborn errors of metabolism are caused by mutations in these genes which do not allow the enzymes to function properly. Sugars are sometimes called "the energy molecules," and galactose and glucose are both sugars. For galactose to be utilized for energy, it must be transformed into something that can enter the metabolic pathway that converts glucose into energy (plus water and carbon dioxide). This is important for infants because they typically get most of their nutrient energy from milk, which contains a high level of galactose. Each molecule of lactose, the major sugar constituent of milk, is made up of a molecule of galactose and a molecule of glucose, and so galactose makes up 20% of the energy source of a typical infant's diet.

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