1. Parents Of Galactosemic Children, Inc. Home Page national, nonprofit, volunteer organization whose mission is to provide information, support, and networking opportunities to families affected by galactosemia http://www.galactosemia.org/

Donations Shopping Get Involved About PGC PGC Roster Conference 2003 Updated info Under Re-Construction Galactosemia Information What is Galactosemia ? Frequently Asked Questions Web Resources Info for the Newly Diagnosed Diet Information Diet Resources Unacceptable Ingredients Calcium Supplementation Galactose in Foods ... Recipes and Products 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. Spring 2004 Important letter from the PGC Board of Directors HERE HERE www.galactosemics.org Minnesota families website - www.galactosemia-mn.com Survey Results HERE This site updated 19 May 2004 Submit questions, or comments about this web site * HERE * Archive Information Our Kids' Stories Web Articles Interviews With The Experts 1999 Newsletter ... Conference Videos Potential Complications Cataracts Learning Disabilities Neurological Impairments Ovarian ... Disorders

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. What Is Galactosemia? What is Classic galactosemia? Classic galactosemia is a rare genetic metabolic disorder. click here to go back to table of contents. What is Duarte galactosemia. 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

4. Galactosemia Resources And Information galactosemia Resources. and Information. General Info. Recipies. Discussion Forum. Other Links. Sign the Guestbook. Enter your Connection information. Submit Comments. Send Me Email. General Information About galactosemia. Galactose Content in Foods If you have opinions, please email me at galactosemia@galactosemia.com. 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.

5. Galactosemia galactosemia An Overview. galactosemia is an inherited disorder independent lives. Dietary Management of galactosemia. The main goal 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.

6. Galactosemia galactosemia information, national and international organizations, clinics, genetic counselors and geneticists galactosemia ( including Duarte and other variants) Qué es la galactosemia?galactosemia Handbook A Guide for Families, Practitioner's Guide to galactosemia, A Teacher's http://www.kumc.edu/gec/support/galactos.html

Galactosemia (including Duarte and other variants) Parents of Galactosemic Children, Inc. 885 Del Sol St. Sparks, NV 89436 Phone: 775.626.0885 E-mail: mesameadow@aol.com Web site: www.galactosemia.org/ Description, history, varients, genetics Student Research Information State Newborn Screening Programs ... European Galactosaemia Society (England, Germany, Switzerland, Netherlands), galactosaemia.com/ Also See: National organizations information on genetic conditions or birth defects Galactosemia , GeneReviews Galactosemia , Texas Department of Public Health handbook brochures (.pfd) and Spanish information Galactosemia Handbook: A Guide for Families Practitioner's Guide to Galactosemia A Teacher's Guide to Galactosemia March of Dimes Newborn Screening Tests Fact Sheet ... Galactosemia: An Overview , Adult Metabolic Transition Project, University of Washington Galactosemia-1 , Pediatric Database (PEDBASE) Galactosemia , OMIM Galactose metabolism , Merck Manua l Save Babies Through Screening (formerly Tyler For Life Foundation) Something to Moo About, Inc.

7. Galactosemia / Family Village Library Who to Contact. Where to Go to Chat with Others. Learn More About It. Web Sites. Search Google for "galactosemia" Who to Contact. Parents of Galactosemic Children. 885 Del Sol Street. Sparks, NV 89436. 775626-0885. E-mail mesameadow@aol.com E-mail mesameadow@aol.com. Web http//www.galactosemia.org/ http://www.familyvillage.wisc.edu/lib_gala.htm

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

8. Galactosemia - DrGreene.com Read about a serious condition found in routine newborn screening. of two simple sugars glucose and galactose. Classic galactosemia is a condition where children lack the enzyme is it treated? galactosemia is treated by removing lactose from the http://www.drgreene.com/21_1097.html

QUICK SEARCH A - Z Guide Allergies Allergy Care Guide Asthma Care Guide Bedwetting Breastfeeding Childhood Obesity Diabetes Care Guide Ear Infections Genetics Immunizations Infectious Diseases Parenting Potty Training Rashes Safety Sleep About DrGreene.com Archives About Us Context Reviews Awards Readers Comments Press Room Partners and Supporters Topic Centers Contact Us Pediatric Information A-Z Guide Allergy Care Guide Asthma Care Guide Diabetes Care Guide Discussion Boards DrGreene´s Chats DrGreene´s Event Schedule FAQ Fast Facts Feature Articles Guidelines Pediatric Updates Special Feature Top Tips Community Activty Guide Advanced Search Community Central Chat Chat Schedule Cute Faces Discussion Boards Family Friendly Recipes Parent-to-Parent Resources The DrGreene Team Newsletter Prenatal Newborn Infants Toddlers Pre-Schoolers School Age Teens / Adolescents Multimedia Library Fertility Children's Health Galactosemia Introduction: Lactose is an important source of calories for most babies, whether from breast milk or formula. For babies with galactosemia, lactose becomes a poison.

9. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?230400

10. Galactosemia This discussion forum has been disabled due to an overabundance of spam. I m sorry for the inconvenience. You can send me an email http://www.galactosemia.com/discussion/discussion.html

Galactosemia Resources and Information Home Page General Info Foods Search ... Recipies Discussion Forum Forum Archives Other Links Galactosemia Discussion Contents Post New Message Click here to see the archived messages. NOTE : You may have to press the RELOAD button on your browser to see the latest entries. DG galactosemia Heather Post New Message Click here to see the archived messages.

11. Galactosemia DisorderSpecific Survival Kit galactosemia. galactosemia An Overview. Dietary Management of galactosemia. Resources. galactosemia An Overview. 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.

12. Galactosemia What Is It? galactosemia is a hereditary disease that is caused by the lack of a liver enzyme chemicals, which causes the symptoms seen in infants with untreated galactosemia. http://www.savebabies.org/diseasedescriptions/galactosemia.htm

13. Galactosemia galactosemia (GALT). What Is It? galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. http://www.savebabies.org/diseasedescriptions/galactosemia.php

Search Our Site! Galactosemia (GALT) 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. Signs and Symptoms Galactosemia usually causes no symptoms at birth, but jaundice, diarrhea, and vomiting soon develop and the baby fails to gain weight. If not detected immediately, it results in liver disease, cataracts, mental retardation, and even death. Death can occur as early as one to two weeks of age from severe escherichia (E. coli) bacteria infections. E. coli infections are common in untreated galactosemic infants. The American Liver Foundation recommends that all infants who develop jaundice be considered for galactosemia.

14. Dean ~ Galactosemia Dean A Dream Come True My name is Dawn Scott and this is our story of how galactosemia touched our lives. He tested positive for galactosemia!” “WHAT! http://www.savebabies.org/familystories/DeanGALT.php

Search Our Site! Dean - A Dream Come True My name is Dawn Scott and this is our story of how Galactosemia touched our lives. It was my 3rd pregnancy, and I’d come to find out we were having our 3rd boy! We were so excited. Our older sons Joseph, 7, and Tyler, 5, were very happy! I felt like I was having my first all over again. I waited 5 years for this pregnancy. So we went for our routine 5-month ultra sound. My older 2 had strep throat so I told my husband to stay home with them. We had already found out the sex and that's what I wanted him with me for. Anyway I said how many times have I had an ultra sound... what can go wrong? So I got the ultrasound done and went in to wait for the doctor. He walked in and said "Um, Mrs. Scott, is your husband here?" Immediately I panicked. “No,” I said. He said, “Okay, well we found 2 tumors on the left side of the baby’s brain. Now don't worryit is common. We just need to do some other tests.” “WHAT!” I went blank – but this is my 3rd child, my other 2 are perfectly healthy! Telling my husband was one of the hardest things I ever did. On December 31, 2001, (New Year's Eve) I had my amnio. I was told that the baby could have Edward's syndrome, Down syndrome, and other things wrong with him. They said you may want to abort, but if we don't get the results by January 12 we will have to send you out west to abort. It’s illegal in New Jersey to terminate after a certain amount of time. I thought no way! This is my baby, I feel him move inside me. People gave us such off the wall advice! Waiting for those results was hell!

15. Texas Department Of Health-Galactosemia Handbook food. Ingredients are always changing and the treatment for galactosemia is unclear. It it. Help your Child Live with galactosemia. It http://www.tdh.state.tx.us/newborn/handbook.htm

Newborn Screening Case Management Program This handbook is meant to give you the basic information that will help you understand how to care for your child with galactosemia. Contact the Texas Department of Health, Newborn Screening Program at or Email for more information. In this handbook, "OK foods" have a next to them and the "not OK foods" have a next to them. What is Galactosemia? (ga-Lac-to-se-me-a) Galactosemia is an inherited disorder that affects the way the body breaks down certain sugars. Specifically, it affects the way the sugar called galactose is broken down. Galactose can be found in food by itself. A larger sugar called lactose, sometimes called milk sugar, is broken down by the body into galactose and glucose. The body uses glucose for energy. Because of the lack of the enzyme (galactose-1-phosphate uridyl transferase) which helps the body break down the galactose, it then builds up and becomes toxic. In reaction to this build up of galactose the body makes some abnormal chemicals. The build up of galactose and the other chemicals can cause serious health problems like a swollen and inflamed liver, kidney failure, stunted physical and mental growth, and cataracts in the eyes. If the condition is not treated there is a 70% chance that the child could die. Galactosemia is not the same thing as lactose intolerance. Galactosemia is more serious because it will cause permanent damage if left untreated.

16. Texas Department Of Health-Galactosemia Newborn Screening Case Management Program. galactosemia. What is galactosemia? galactosemia En Español ¿Qué es la galactosemia? - La http://www.tdh.state.tx.us/newborn/galac_1.htm

Newborn Screening Case Management Program Galactosemia What is Galactosemia? - Galactosemia (ga-lac-to-se-me-a) is a rare hereditary condition caused by the body's inability to breakdown galactose (a sugar found in milk and milk products). En Español ¿Qué es la Galactosemia? - La galactosemia es una enfermedad hereditaria rara, causada por la incapacidad del cuerpo para transformar la galactosa (un azúcar que se encuentra en la leche y productos de leche). The Galactosemia Brochure (49.4KB) is available in both English and Spanish in pdf format. PDF files must be viewed/printed with Acrobat Reader. Galactosemia Food Card - The treatment for galactosemia is to restrict galactose and lactose from the diet for life. En Español Tarjeta Del Alimento De Galactosemia - El tratamiento para la galactosemia es disminuir la lactosa y la galactosa de la dieta de esta persona para toda la vida. Galactosemia - Galactosemia is an inborn error of metabolism characterized by the inability to convert galactose to glucose. This results in an elevation of blood and urine galactose levels. Galactosemia is a rare disorder transmitted as an autosomal recessive trait. Galactosemia Handbook: A Guide for Families - This handbook is meant to give you the basic information that will help you understand how to care for your child with galactosemia.

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

@import url(http://www.nlm.nih.gov/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.

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

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Omita y vaya al Contenido Otros enciclopedia temas: A-Ag Ah-Ap Aq-Az B-Bk ... Z Galactosemia Contenido: Definici³n Nombres alternativos Causas, incidencia y factores de riesgo S­ntomas ... Galactosemia Definici³n Volver al comienzo 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 Volver al comienzo Deficiencia de galactosa-1-fosfatouridil transferasa; deficiencia de galactocinasa; deficiencia de galactosa-6-fosfato epimerasa Causas, incidencia y factores de riesgo Volver al comienzo La galactosemia es una enfermedad hereditaria, transmitida como un rasgo autos³mico recesivo y cuya ocurrencia es aproximadamente de 1 por cada 60.000 nacimientos. Existen 3 formas de la enfermedad: deficiencia de galactosa-1-fosfatouridil transferasa (galactosemia cl¡sica, la forma m¡s comºn y la m¡s grave), deficiencia de galactosa cinasa y deficiencia de galactosa-6-fosfato epimerasa. Las personas con galactosemia son incapaces de descomponer completamente el azºcar simple galactosa, que compone la mitad de la lactosa, el azºcar que se encuentra en la leche. La lactosa es un disac¡rido (di significa 2 y sac¡rido significa azºcar) debido a que est¡ compuesto de dos azºcares, galactosa y glucosa, enlazados.

19. EMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Galactose1-Phosphate Uridyltransferase Deficiency (galactosemia) - Hereditary galactosemia is 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: July 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: GALT, galactosemia, GALT deficiency, galactose diabetes AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: George A Anadiotis, DO , Consulting Staff, Department of Pediatric Rehabilitation and Development, Division of Clinical and Biochemical Genetics, Emmanuel Children's Hospital Coauthor(s): Gerard T Berry, MD , Professor, 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

20. Galactosemia - Liver Health Information - The American Liver Foundation galactosemia, Because of the potential disastrous side effects of late diagnosis, many states have mandatory neonatal screening programs for galactosemia. 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.

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