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         Galactosemia:     more books (24)
  1. Galactosemia - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-28
  2. Galactosemia - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-16
  3. Galactosemia: Webster's Timeline History, 1917 - 2007 by Icon Group International, 2009-07-08
  4. Is galactosemia variant Tx overkill? Or necessary? Clinically benign, long-term risks unknown.(Clinical Rounds): An article from: Pediatric News by Sherry Boschert, 2004-01-01
  5. Gale Encyclopedia of Medicine: Galactosemia by CGC Amy Vance MS, 2002-01-01
  6. Galactosemia: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Deanna, RN Swartout-Corbeil, 2006
  7. Galactosemia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amy, MS, CGC Vance, 2005
  8. Galactosemia by david hsia, 1969-01-01
  9. Galactosemia in infancy: diagnosis, management, and prognosis.: An article from: Pediatric Nursing by Maureen A. Chung, 1997-11-01
  10. Galactosemia: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Amy, MS, CGC Vance, Teresa Odle, 2006
  11. Genetics & Inherited Conditions: Aarskog Syndrome-galactosemia (Salem Health)
  12. Galactosemia; annotated bibliography (United States. Dept. of Health, Education, and Welfare. [DHEW publication) by Donough O'Brien, 1971
  13. Congenital Galactosemia, a Single Enzymatic Block in Galactose Metabolism. Extract from: Science, vol. 123, 1956. by Kurt J., et al. ISSELBACHER, 1956-01-01
  14. Dietary management of inherited metabolic disease: Phenylketonuria, galactosemia, tyrosinemia, homocystinuria, maple syrup urine disease by Phyllis B Acosta, 1976

41. Short Description Of Cell Lines. Pathology Asymptomatic
Version 4.200205, Short description of cell lines. Pathology asymptomaticgalactosemia OMIM Home. By selecting the cell line name
http://www.biotech.ist.unige.it/cldb/pat233.html

42. Galactosemia - Información General
Translate this page galactosemia - Información general.
http://pcs.adam.com/ency/article/000366.htm
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Galactosemia - Información general
Información general Prevención Síntomas Tratamiento
Nombres alternativos:
Deficiencia de galactosa1-fosfatouridil transferasa.
Definición:
Incapacidad del organismo para utilizar ( metabolizar ) el azúcar simple galactosa (en la forma de galactosa 1 fosfato), que alcanza altos niveles en el organismo y causa lesiones a varios sistemas corporales.
Causas, incidencia y factores de riesgo:
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 cataratas y lesión cerebral.

43. Galactosemia
back. An infant with galactosemia is unable to use (metabolize) the simple sugargalactose, which reaches high levels in the body, causing damage to the liver
http://www.pennhealth.com/imagepages/17187.htm
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. Review Date: 6/22/2000 12:00:00 AM
Reviewed By:J. Gordon Lambert, MD, Associate Medical Director; G. Eric Morgan, MS3; RxRemedy

44. GALACTOSEMIA
galactosemia A rare genetic (autosomal recessive) disorder characterized bythe 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:

45. Galactosemia Articles, Support Groups, And Resources
galactosemia articles, support groups, and resources for patients from MedHelp International (www.medhelp.org). Health galactosemia. Medical
http://www.medhelp.org/HealthTopics/Galactosemia.html
[Health Topics A-Z]
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Galactosemia

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[Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

46. Galactosemia
WHAT IS galactosemia? WHAT CAUSES galactosemia? galactosemia is hereditary. Tohave the disease, a child must inherit the tendency from both parents.
http://www.liverkids.org.au/fgalactosemia.htm

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Netfirms Web Hosting WHAT IS GALACTOSEMIA? Galactosemia is a rare hereditary disease that can lead to cirrhosis in infants, and early, devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown). WHAT CAUSES GALACTOSEMIA? Galactosemia is hereditary. To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1 in 20 000 live births. For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency. Because of the potentially disastrous effects of late diagnosis, many states have mandatory neonatal screening programs for galactosemia. WHAT ARE THE SYMPTOMS OF GALACTOSEMIA? The disease usually appears in the first few days of life following the ingestion of breast milk or formula. Vomiting, liver enlargement, and jaundice are often the earliest signs of the disease, but bacterial infections (often severe), irritability, failure to gain weight, and diarrhoea may also occur. If unrecognised in the newborn period, the disease may produce liver, brain, eye and kidney damage. HOW IS GALACTOSEMIA DIAGNOSED?

47. CLF : Galactosemia
galactosemia What is galactosemia? galactosemia is breakdown). What causesgalactosemia? galactosemia is hereditary. To
http://www.liver.ca/english/liverdisease/galactosemia.html
CLF Regional Offices Find a Location BC/Yukon Alberta Saskatchewan Manitoba GTA S.W. Ontario Central Ontario S.E. Ontario Quebec Atlantic Can. GALACTOSEMIA
What is galactosemia?
Galactosemia is a rare hereditary disease that can lead to cirrhosis in infants, and early, devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown).
What causes galactosemia?
Galactosemia is hereditary. To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1 in 20,000 live births. For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency. Because of the potentially disastrous effects of late diagnosis, many states have mandatory neonatal screening programs for galactosemia.
What are the symptoms of galactosemia?
The disease usually appears in the first few days of life following the ingestion of breast milk or formula. Vomiting, liver enlargement, and jaundice are often the earliest signs of the disease, but bacterial infections (often severe), irritability, failure to gain weight, and diarrhea may also occur. If unrecognized in the newborn period, the disease may produce liver, brain, eye and kidney damage.
How is galactosemia diagnosed?

48. Health Ency.: Disease: Galactosemia
galactosemia. systems. Causes and Risks. galactosemia is an inheriteddisorder (transmitted as an autosomal recessive trait). It occurs
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Ency. home Disease G Galactosemia Overview Symptoms Treatment Prevention Alternative names: Galactose-1-phosphate uridyl transferase deficiency; Galactokinase 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 and Risks 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 metabolise 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.

49. Galactosemia
galactosemia. Test. Biochemical assay detecting galactose uridyltransferase and galactoseone-phosphate (the Beutler test). Heat
http://gucfm.georgetown.edu/welchjj/netscut/genetics/Galactosemia.html
Galactosemia
Test
  • Biochemical assay detecting galactose uridyl transferase and galactose-one-phosphate (the Beutler test ). Heat and humidity degrade the transferase, yielding false positives. Hill test : fluorometric assay for galactose, used with Beutler, only positive after milk ingestion Paigen E. coli phage test : more reliable, also identifies other galactose disorders Confirmatory test
      Urine for non-reducing substances (+++ galatosemia, + galactokinase or epimerase deficiency, ++ in Vit. C), if negative, likely problem with fructose metabolism serum galactose and gal-1-phosphate, erythrocyte gal-1-phosphate uridyltransferase (by electrophoresis)
    Genetics
    • Autosomal recessive 1:60,000 to 1:80,000
    Pathology
    • A cellular deficiency in one of the enzymes needed to convert galactose to glucose. Galactose-1-phosphate uridyl transferase (GALT) deficiency is the defect in the severe form of the disease
    Diagnosis
    • Symptoms occurs within the first two weeks of life: jaundice, vomiting, lethargy, hepatosplenomegaly, cataracts, and failure to thrive may proceed to severe morbidity from liver failure, sepsis, or bleeding. Death may occur. E. coli

50. Florida State University College Of Medicine Digital Library
galactosemia Clinical Resources. Miscellaneous galactosemia Clinical ResourcesHealth Reviews for Primary Care Providers on the Internet Homepage
http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/carbohydrate/galactosemi
Clinical Resources by Topic: Metabolic Disorders
Galactosemia Clinical Resources
Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also:

51. Florida State University College Of Medicine Digital Library
galactosemia Patient/Family Resources. Miscellaneous. Chapter 267 Metabolic DisordersAccess document. Miscellaneous galactosemia Patient/Family Resources
http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/carbohydrate/galactos
Patient/Family Resources by Topic: Metabolic Disorders
Galactosemia Patient/Family Resources
Pediatrics Spanish Miscellaneous See also:

52. Borderline Galactosemia
Borderline galactosemia. A severe galactosemic patient, on the other hand, hastwo copies of the gene for galactosemia, and has little or no enzyme.
http://www.lalecheleague.org/NB/NBJulAug97p123.html
HOME What's New About LLLI Product Catalog ... Local Contacts 1400 N. Meacham Road, Schaumburg, IL 60173-4808 USA (847) 519-7730 NEW BEGINNINGS Articles Infant/Child Breastfeeding Issues Allergies Biting Colic Dental Health and Teething ... Weight Issues (Child)
Borderline Galactosemia
By Rama Ganesan
Blacksburg VA USA
From: NEW BEGINNINGS, Vol. 14 No. 4, July-August 1997, pp. 123-24
When my son, Jayanth, was born, I had not anticipated the problems I would have nursing him, nor the strength of my desire to do so. Jayanth did not latch on well, and his blood sugar level was very low. We taught him to nurse over the first few weeks, during which time he received supplements of formula. By about six weeks we had learned to become an effective nursing couple. He began to refuse the formula supplements and became exclusively breastfed. At this point the hospital informed us that one of Shubha's test results was questionable, and that the test had to be repeated. The result indicated that Shubha may have insufficient quantities of the enzyme that metabolized galactose. Galactose is the sugar that is obtained from the lactose in milk, and the enzyme that metabolizes this sugar is found mainly in the red blood cells. When galactose is not metabolized, it will reach high levels in the blood and become toxic, causing cataracts in the eyes, damage to the liver and kidneys, and brain damage. The galactosemic baby will fail to thrive on breast milk or formula based on cow's milk. The treatment for this condition is to remove all sources of lactose from the baby's diet and give soy formula.

53. Galactosemia | Vhihealthe
galactosemia. 2148 Bryton Dr., Powell OH 43065. http//www.galactosemia.org/index.htm.First published July 14, 1999 Copyright 19992001.
http://www2.vhihealthe.com/topic/galactosemia
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Galactosemia
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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.

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

55. ThirdAge - Adam - Galactosemia
galactosemia is the inability of the body to use (metabolize) the simple sugargalactose (causing the accumulation of galactose 1phosphate), which then
http://www.thirdage.com/health/adam/ency/article/000366.htm
document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>'); Activities Computers Family Tree Health ... 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) 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.

56. Galactosemia | Ahealthyme.com
You are here Home Ills Conditions galactosemia.galactosemia Lica, Lorraine.
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Galactosemia
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Below:

Definition

Description

Causes and symptoms

Diagnosis
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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.

57. GALACTOSEMIA
galactosemia is a rare hereditary disease leading not only to cirrhosis in infants,but more seriously, to early devastating illness if not diagnosed quickly.
http://www.gastro.com/html/liverdisease/galactosemia.shtml
Galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown). To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1:20,000 live births. For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency. Because of the potential disastrous side effects of late diagnosis, many states have mandatory neonatal screening programs for galactosemia.
The disease usually appears in the first days of life following the ingestion of breast milk or formula. Vomiting, liver enlargement, and jaundice are often the earliest signs of the disease, but bacterial infections (often severe), irritability, failure to gain weight, and diarrhea may also occur. If unrecognized in the newborn period, the disease may produce liver, brain, eye and kidney damage. Blood tests can make the diagnosis. The disease is detected by measuring the level of enzyme in red blood cells, white blood cells or liver. Affected patients have no enzyme activity; carriers (parents) have intermediate enzyme activity (about 1/2 the normal level). A galactose tolerance test should never be done, as it may be harmful. Affected infants who ingest galactose will excrete it in large quantities in their urine where it can also be detected. If the infant is vomiting, and not taking milk, the test can be negative. If the disease is suspected, the diagnosis should be confirmed by blood testing.

58. Galactosemia Management
galactosemia Dietary Management Once galactosemia is suspected, the infantneeds to be switched immediately to the soy formula ProSobee ® .
http://www.meadjohnson.com/metabolics/galactosemiamanage.html
Galactosemia: Dietary Management Sandra Van Calcar, M.S., R.D.
Biochemical Genetics Clinic, University of Wisconsin-Madison
Madison, WI Once galactosemia is suspected, the infant needs to be switched immediately to the soy formula ProSobee . This formula contains only minute amounts of galactose compared with formulas made with cow’s milk. Affected infants can be fed ProSobee ad libitum at the standard dilution. Once solids are started at 4 to 6 months of age, parents must begin reading food labels to identify appropriate foods to give their young child. Baby food lists identifying acceptable foods are available (see Resource 1). A list of common foods and food ingredients that must be eliminated is provided in Table 1. Reading food labels is an essential component of managing galactosemia. Any food containing an ingredient with lactose or galactose must be eliminated from the diet. As the young child transitions to table foods, parents must continue to read food labels to identify any ingredients which are unacceptable in the diet for galactosemia. As the child matures, he or she can be involved in reading food labels as well and should become increasingly responsible for this task.

59. CCHS Clinical Digital Library
galactosemia Clinical Resources. Miscellaneous galactosemia Clinical ResourcesHealth Reviews for Primary Care Providers on the Internet Homepage
http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/carbohydrate/galactosemia.
Clinical Resources by Topic: Metabolic Disorders
Galactosemia Clinical Resources
Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also:

60. Galactosemia Resource - Home Page
This is the entry page for the galactosemia Resource Web site. Finddiet information, discussions, news, etc. galactosemia Resource
http://www.galactosemia.ca/
Galactosemia Resource Knowledge is the best Medicine! What's New " Rice Pudding " in Recipes Mar 21 " Great Allergy.... " in Recipes Nov 11 " Easy Breakfast Bars " in Recipes Nov 01 " Frozen Bananas " in Recipes Oct 25 " Food Sources of Calcium " in Articles July 03 " Calcium and Osteoporosis " in Articles June 23 " Interesting Galactosemia Story " in Links April 24 " A Teacher's Guide to Galactosemia " in Links April 23 " Texas Guide to Galactosemia: Basics " in Links April 22 " Speech and Language Information " in Links April 21 " Apraxia Kids " in Links April 20 " Justin Bloodworth " in Photos March 26 "

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