1. Parents Of Galactosemic Children, Inc. Home Page Information about galctosemia and a resource for families living with galactosemia. http://www.galactosemia.org/

Galactosemia Information Diet Information Potential Complications Archive Information HAPPY 20 th BIRTHDAY PGC !! Parents of Galactosemic Children, Inc. (PGC) is a national, non-profit, volunteer organization whose mission is to provide information, support, and networking opportunities to families affected by galactosemia. Summer 2005 PGC Announces 2006 Conference HERE Thank You for supporting the Research Study HERE PGC Awareness Bracelets are HERE HERE Subscribe to magazines and help PGC - HERE HERE New PGC Logo Items for Sale!! - HERE This site updated 14 July 2005 Submit questions or comments about this web site * HERE * About PGC Donations Get Involved ... Register

2. NORD - National Organization For Rare Disorders, Inc. Offers the synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Galactosemia

3. MedlinePlus Medical Encyclopedia: Galactosemia Includes symptoms, tests, treatment, and prevention. http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm

@import url(/medlineplus/images/advanced.css); 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, 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.

4. GALACTOSEMIA Case Reports Pediatric Oncall Presented is a case study of galactosemia in a four month old female child. http://www.pediatriconcall.com/fordoctor/casereports/galactosemia.asp

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out GALACTOSEMIA UserName Password New Register Forgot password Dr. Ira Shah M.D, DNB, DCH(Gold Medalist), FCPS Case Report: Discussion: Galactosemia is a disorder of galactose metabolism. Three inherited disorders of galactose metabolism have been described. They are all transmitted by autosomal recessive inheritance. The clinical manifestations in infants are due to toxic effects of prolonged exposure to galactose. Type I Galactosemia (Galactose-1 Phosphate Uridyl Transferase deficiency): The most common initial clinical sign is failure to thrive. Vomiting or diarrhea starts in a few days with milk ingestion. Jaundice presents in a few weeks and is initially unconjugated. Untreated it may progress to liver disease and cirrhosis. Ascitis may be a prominent early finding. Histopathology of liver reveals fatty infiltration and inflammatory changes at an early stage. As the disease progresses, bile stasis, pseudoacinar formation and partial fibrosis is seen eventually leading to cirrhosis. Cataracts can be observed within a few days of birth. Mental retardation becomes apparent after several months of life. There is a high frequency of neonatal death due to E.coli sepsis.

5. Parents Of Galactosemic Children, Inc. Home Page Information about galctosemia and a resource for families living with galactosemia. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. What Is Galactosemia? Classic galactosemia is a rare genetic metabolic disorder. A person unaffected by galactosemia (neither carrier nor galactosemic) inherits two ‘normal http://www.galactosemia.org/galactosemia.htm

Table of Contents What is Classic Galactosemia What is Duarte Galactosemia Genetics of Galactosemia History of Galactosemia ... Student Research Information What is Classic Galactosemia? Classic Galactosemia is a rare genetic metabolic disorder. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers. Patients who inherit the classic galactosemia gene from each parent are sometimes described as having the genetic makeup "G/G". Normally when a person consumes a product that contains lactose (e.g., dairy products such as milk, cheese, butter), the body breaks the lactose down into galactose and glucose. Glucose is the sugar used by the body for energy. Galactosemia means too much galactose in the blood caused by the individual "missing" the enzyme (known as GALT) to convert galactose into glucose. This accumulation of galactose is a poison to the body and can cause serious complications such as the following and if untreated, as high as 75% of infants will die: an enlarged liver kidney failure cataract brain damage Diagnosis is made usually within the first week of life by blood test from a heel prick as part of a standard newborn screening. Treatment requires the strict exclusion of lactose/galactose from the diet. Although galactosemic children are started on diet restriction at birth, there continues to be a high incidence of long-term complications involving speech and language, fine and gross motor skill delays and specific learning disabilities. Ovarian failure may occur in girls. Prenatal diagnosis by amniocentresis is also available

7. What Is Galactosemia? Genetics of galactosemia History of galactosemia Genetics of galactosemia History of galactosemia Student Research Information NEW http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Galactosemia Resources And Information Welcome to the galactosemia Resources and Information page. If you have opinions, please email me at galactosemia@mieleherndon.com. Regards, Ken. http://www.galactosemia.com/

Galactosemia Resources and Information Home Page General Info Foods Search Recipies ... Connections Welcome to the Galactosemia Resources and Information page. Sign the Guestbook Enter your Connection information Submit Comments Send Me Email Many thanks to all who have emailed already! See Related Sites: Arpali Funter Kenute Yellahouse ... About this Website This site contains the following resources: General Information About Galactosemia Just that. Galactose Content in Foods Lists of foods and their galactose content. Discussion Forum Search Page Discuss galactosemia, metabolic disorders, nutrition, behavior, school, formula you name it! Connections Contact information for other families of galactosemics. Recipes Recipes that are non-dairy, and do not contain any foods that galactosemics should not eat (see the food list The Miele-Herndon Home Page Galactosemia.com is sponsored by: The Washington Online Learning Institute Paralegal Training and Career Development Courses UPDATES After a brief hiatus, the discussion board is alive again! I've put in some additional anti-spam measures, so hopefully we won't be over run with unwanted postings. Best wishes to all.

9. Galactosemia galactosemia An Overview galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. General Information Very briefly, galactosemia is a genetically inherited metabolic disorder that is There are a number of varieties of galactosemia. Classic galactosemia http://www.galactosemia.com/generalinfo.html

Galactosemia Resources and Information Home Page General Info Foods Search Recipies Discussion Forum ... Connections General Information about Galactosemia Very briefly, galactosemia is a genetically inherited metabolic disorder that is characterized by the partial or complete lack of an enzyme ( galactose-1-phosphate uridyl transferase ) in the bloodstream that breaks down the carbohydrate (sugar) called galactose . This is a rare disease, occuring in 1 in 80,000 births (numbers vary depending on who you talk to). There are a number of varieties of galactosemia. "Classic" galactosemia, the most common, is treatable by removing all lactose or galactose-containing foods from the diet. This includes breast milk, dairy products, most legumes, and many other foods. Opinions differ on what other foods should be avoided. People with the "Duarte" form of galactosemia do have some enzyme activity, and often do not need to go on strict dietary restrictions. Galactosemia is normally found via a newborn screening test that is done simultaneously with the PKU test (the two tests are different, however). For more specific information, please peruse the

11. Galactosemia galactosemia An Overview. galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Galactosemia galactosemia is a hereditary disease that is caused by the lack of a galactosemia is normally first detected through the newborn screening test, or NBS. http://www.savebabies.org/diseasedescriptions/galactosemia.php

Search Our Site! Galactosemia (GALT) Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you. What Is It? Galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. Galactose is a breakdown product of lactose, which is most commonly found in milk products. Since galactose cannot be broken down, it builds up in the cells and becomes toxic. The body then produces abnormal chemicals, which causes the symptoms seen in infants with untreated galactosemia. Inheritance and Frequency The gene defect for Galactosemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect. Studies conducted since 1979 show that 1 of every 7,500 live births will have some form of galactosemia (Georgia annual Newborn Screening report - 1997). It is also estimated that 1 of every 40 people is a carrier of this defective gene.

13. Galactosemia Resources And Information galactosemia Resources and Information Home Page. General Info Connections Welcome to the galactosemia Resources and Information page. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Galactosemia It is now recommended that persons with galactosemia should avoid eating foods Ideally, a person with galactosemia should have a blood gal1-p level http://depts.washington.edu/transmet/gal.html

Galactosemia: An Overview Galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose. Galactosemia means "galactose in the blood ". Galactose is a type of food sugar found mainly in dairy products, and is produced within the body as well. The main source of galactose in the diet is milk products. Milk contains a sugar called lactose, and during digestion, lactose is broken down into the sugars glucose and galactose. Glucose can be used as a source of energy by the body, but galactose needs to be further broken down by a specific chemical (enzyme) before it can be utilized. Persons with galactosemia have very little or entirely lack an enzyme that helps the body break down galactose. There are three different enzyme problems that can lead to galactosemia. This information will focus on the most common type of galactosemia, often called "classic galactosemia". The enzyme that is reduced or missing in classic galactosemia is called galactose-1-phosphate uridyl transferase (GALT). The GALT enzyme enables the body to break down galactose into glucose for energy. Because some individuals with galactosemia have more enzyme than others, the severity and treatment of the disorder can vary. Galactosemia is treated by removing foods that contain galactose from the diet. Any foods containing lactose, thereby containing galactose, should be avoided. Untreated galactosemia will result in a harmful build-up of galactose and galactose-1-phosphate (a form of galactose) in the bloodstream and body tissues. Infants with unrecognized galactosemia usually have problems with feeding and do not grow as they should. If galactosemia is not treated, infants can develop cataracts, liver disease and kidney problems. In addition, the build-up of galactose and galactose-1-phosphate can cause brain damage, and in some cases, can lead to death. Even with treatment, some children may develop learning disabilities, and girls with galactosemia may have problems with their ovaries. With continued dietary management, however, many individuals with galactosemia enjoy good health, and are able to lead independent lives.

15. Texas Department Of Health-Galactosemia Handbook galactosemia Handbook A Guide for Families http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Galactosemia galactosemia is an inherited disorder characterized by an inability of the Persons with galactosemia have very little or entirely lack an enzyme that http://depts.washington.edu/transmet/The process/galactosemia.htm

Disorder-Specific Survival Kit: Galactosemia Galactosemia: An Overview Dietary Management of Galactosemia Food Labels Medicine ... Resources Galactosemia: An Overview Galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose. Galactosemia means "galactose in the blood ". Galactose is a type of food sugar found mainly in dairy products, and is produced within the body as well. The main source of galactose in the diet is milk products. Milk contains a sugar called lactose, and during digestion, lactose is broken down into the sugars glucose and galactose. Glucose can be used as a source of energy by the body, but galactose needs to be further broken down by a specific chemical (enzyme) before it can be utilized. Persons with galactosemia have very little or entirely lack an enzyme that helps the body break down galactose. There are three different enzyme problems that can lead to galactosemia. This information will focus on the most common type of galactosemia, often called "classic galactosemia". The enzyme that is reduced or missing in classic galactosemia is called galactose-1-phosphate uridyl transferase (GALT). The GALT enzyme enables the body to break down galactose into glucose for energy. Because some individuals with galactosemia have more enzyme than others, the severity and treatment of the disorder can vary. Galactosemia is treated by removing foods that contain galactose from the diet. Any foods containing lactose, thereby containing galactose, should be avoided. Untreated galactosemia will result in a harmful build-up of galactose and galactose-1-phosphate (a form of galactose) in the bloodstream and body tissues. Infants with unrecognized galactosemia usually have problems with feeding and do not grow as they should. If galactosemia is not treated, infants can develop cataracts, liver disease and kidney problems. In addition, the build-up of galactose and galactose-1-phosphate can cause brain damage, and in some cases, can lead to death. Even with treatment, some children may develop learning disabilities, and girls with galactosemia may have problems with their ovaries. With continued dietary management, however, many individuals with galactosemia enjoy good health, and are able to lead independent lives.

17. Texas Department Of Health-Newborn Screening galactosemia Basics http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Galactosemia / Family Village Library Who to Contact Where to Go to Chat with Others Learn More About It Web Sites Search Google for "galactosemia" http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Galactosemia - Liver Health Information - The American Liver Foundation galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, galactosemia should be considered in any jaundiced infant because of http://www.liverfoundation.org/db/articles/1046

Liver Health Articles Liver Health Links Patient Stories PDF Newsletter ... Publications 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. 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). Risk: 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. Symptoms: 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. Diagnosis: 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.

20. Galactosemia Search Our Site! galactosemia (GALT) Other Sites of Reference. galactosemia Discussions. MieleHerndon galactosemia Discussion Group http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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