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| | Galactosemia |
 | | Robertson A and Singh RH (2000) Outcomes analysis of verbal dyspraxia in classic galactosemia. | | | In one cross-sectional retrospective study correlating genotype with outcome in individuals with classic galactosemia, a greater proportion of individuals with a poor outcome were homozygous for the Q188R mutation, and a greater proportion with a good outcome were not homozygous for the Q188R mutation [ | | | The parents of an affected individual are obligate heterozygotes and therefore carry one mutant allele. |
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http://www.geneclinics.org/profiles/galactosemia/details.html
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| | More references to Journals |
| | The difference in behavior of the metabolism of galactose in those patients may be due to the development of an alternative pathway (Cuatrecasas and Segal, 1966). | | | One S135L allele was found out of the 100 GALT alleles in 50 black subjects; 16 out of 32 alleles in 16 galactosemic patients were of the S135L type. | | | Long-term results of treatment have been disappointing; IQ is low in many despite early and seemingly adequate therapy. |
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http://www.galactosemia.com/discussion/archives/_galdisc/00000459.htm
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| | Galactosemia - KP Genetics Northern California |
| | The goal of treatment for galactosemia is to keep the blood levels of galactose and Gal-1-P consistently low in order to try to avoid the poor consequences of having high levels. | | | Newborns with untreated galactosemia can develop severe infections and/or die within the first few weeks of life. | | | Genes give the body the instructions it needs for growth and healthy development. |
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http://www.dor.kaiser.org/genetics/home/galactosemia.htm
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| | Galactosemia |
| | Mutational analysis is useful to reduce false positive results, differentiate D/G mixed heterozygotes from classical galactosemia, and to clearly identify a very high percentage of those affected by classical galactosemia. | | | Future directions for exploration of this enigmatic condition are discussed. | | | The five assays are performed simultaneously using common conditions. |
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http://www.thedoctorsdoctor.com/diseases/galactosemia.htm
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| | Newborn Screening Case Management |
| | The incidence of galactosemia is about 1:65,000 births. | | | Families learn to question physicians and pharmacists about prescribed medicines for their child since many medicines contain fillers that include galactose. | | | These health professionals provide the child with appropriate medical care and educate the family concerning special diet requirements. |
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http://www.dshs.state.tx.us/newborn/galacbro.shtm
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| | Galactosemia Test - SJMMC, Ann Arbor, Michigan MI |
| | Monitor the effectiveness of diet changes for a child with galactosemia. | | | If you have bleeding or clotting problems, or if you take blood-thinning medication, tell your health professional before your blood is drawn. | | | To help you understand the importance of this test, fill out the medical test information form |
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http://www.sjmercyhealth.org/13803.cfm
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| | Galactosemia |
| | With continued dietary management, however, many individuals with galactosemia enjoy good health, and are able to lead independent lives. | | | This information will focus on the most common type of galactosemia, often called "classic galactosemia". | | | Galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose. |
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http://depts.washington.edu/transmet/gal.html
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| | Galactosemia |
| | A person with galactosemia is not someone who had galactosemia as a child and then grew out of it. | | | Many hours of hard work have been done to help children, maybe even yours. | | | Galactosemia is often confused with lactose intolerance, but please keep in mind that galactosemia is a disease. |
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http://www.savebabies.org/diseasedescriptions/galactosemia.php
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| | Galactosemia |
| | More study is needed to determine the long-term safety and effectiveness of the use of this drug. | | | Speech and vision difficulties and some behavioral problems may occur. | | | Research is continuing into the use of the drug ureline as a possible treatment for Galactosemia. |
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http://hw.healthdialog.com/kbase/nord/nord373.htm
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| | Newborn Screening Program - Galactosemia |
| | The incidence of classical galactosemia is one in 60,000 births. | | | Without early treatment, sepsis due to Escherichia coli may prove fatal in the neonatal period. | | | Caution concerning administration of certain drugs that may contain lactose is also necessary. |
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http://www.idph.state.il.us/HealthWellness/fs/galactosemia.htm
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| | Galactosemia - Liver Health Information - The American Liver Foundation |
| | For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency. | | | With early therapy, any liver damage which occurred in the first few days of life will nearly completely heal. | | | Galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly. |
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http://www.liverfoundation.org/cgi-bin/dbs/articles.cgi?db=articles&uid=default&ID=1046&view_records=1
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| | Galactosemia General Overview |
| | If the information contained on this page does not answer all of your questions or you would just simply like more information, please check out the Clinical Description and Related Links pages or contact us with your specific question. | | | For more information about this, contact your health care provider or a genetic counselor. | | | Infants with untreated galactosemia may also develop brain damage, liver disease, and cataracts. |
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http://www.doh.wa.gov/ehsphl/phl/Newborn/galgo.htm
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| | Galactosemia testing |
| | The most frequent early presentation of classical galactosemia is | | | See the infant immediately and make certain the infant has no signs of galactosemia: | | | Contact your Galactosemia Treatment Center (573-884-5195) to discuss confirmatory/diagnostic testing, medical |
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http://www.genetics.missouri.edu/Galactosemia.htm
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| | Galactosemia - Genetics Home Reference |
| | This condition results when the body is not able to process the sugar galactose, which is found in many foods. | | | Liver dysfunction, cataracts (clouding of the lens of the eye), speech problems, and mental impairment are characteristic of this condition if not treated. | | | Galactosemia is a disorder that affects how the body processes certain sugars (sugar metabolism). |
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http://ghr.nlm.nih.gov/condition=galactosemia
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| | Galactosemia aHealthyAdvantage |
| | Prospective parents can then use that information to conduct family planning or to prepare for a child with special circumstances. | | | These symptoms include speech disorders, cataracts, ovarian atrophy and infertility in females, learning disabilities, and behavioral problems. | | | Treatment of the severe form of galactosemia III with a galactose-restricted diet has been tried, but this disorder is so rare that the long-term effects of this treatment are unknown. |
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http://www.ahealthyadvantage.com/topic/galactosemia
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| | Borderline Galactosemia |
| | The condition of severe galactosemia occurs once in 40,000 - 60,000 infants. | | | A severe galactosemic patient, on the other hand, has two copies of the gene for galactosemia, and has little or no enzyme. | | | The results showed that Shubha has a borderline galactosemic condition, or in genetic terms, she has the D/G compound. |
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http://www.lalecheleague.org/NB/NBJulAug97p123.html
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| | MedlinePlus Medical Encyclopedia: Galactosemia |
| | Calling your health care provider 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. | | | Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). |
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http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm
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| | Galactosemics.org |
| | Feel free to put your stories about how galactosemia has affected your life in this forum. | | | This is for the discussion of learning problems and speech delays related to galactosemia. | | | This area is for general discussions related to Galactosemia. |
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http://www.galactosemics.org/forums
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| | Galactosemia Resources and Information |
| | Discuss galactosemia, metabolic disorders, nutrition, behavior, school, formula -- you name it! | | | Recipes that are non-dairy, and do not contain any foods that galactosemics should not eat (see the food list). | | | Many thanks to all of you who keep the discussion alive and well. |
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http://www.galactosemia.com
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| | Galactosemia - Wikipedia, the free encyclopedia |
| | Galactosemia is sometimes confused with lactose intolerance, but the galactosemia is a more serious condition. | | | Individuals with Duarte galactosemia may experience few or none of the serious symptoms of classic galactosemia. | | | Without treatment, mortality in infants with galactosemia is about 75%. |
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http://en.wikipedia.org/wiki/Galactosemia
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| | Galactosemia - DrGreene.com |
| | Classic galactosemia is a condition where children lack the enzyme necessary to process galactose. | | | Most die during infancy if the galactosemia is not identified and treated. | | | Most people with galactosemia will develop obvious symptoms in infancy. |
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http://www.drgreene.com/21_1097.html
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| | Introduction: Galactosemia - WrongDiagnosis.com |
| | Treatments for Galactosemia: Various information is available about treatments available for Galactosemia, or research treatments for other diseases. | | | Galactosemia information: Galactosemia, a rare genetic disorder, hampers the body's ability to process the sugar galactose. | | | Removing milk from the diet is the usual treatment. |
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http://www.wrongdiagnosis.com/g/galactosemia/intro.htm
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| | Galactosemia - Parents |
| | Children with D/G have some of the enzyme and a few may have a milder form of the condition. | | | Galactosemia is an inherited metabolic disorder that occurs when both parents pass a gene for galactosemia to their child. | | | Typically, galactosemia is treated with a special diet that does not contain galactose or lactose. |
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http://www.dhs.ca.gov/pcfh/gdb/Html/NBS/GalactosemiaForParents.htm
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| | GeneReviews: Galactosemia |
| | GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. | | | Your browser does not support HTML frames so you must view Galactosemia in a slightly less readable form. |
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http://www.geneclinics.org/profiles/galactosemia
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| | GALACTOSEMIA Case Reports Pediatric Oncall |
| | There are several enzymatic variants of galactosemia of which the Duarte Variant has diminished red cell enzyme activity but no clinical significance and some African-American patients have milder symptoms despite the absence of measurable transferase activity in RBCs as these patients retain about 10% enzyme activity in liver and intestinal mucosa. | | | The most common initial clinical sign is failure to thrive. | | | Prenatal diagnosis: Carrier testing and prenatal diagnosis can be performed by direct enzyme analysis of amniocytes or chorionic villi. |
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http://www.pediatriconcall.com/fordoctor/casereports/galactosemia.asp
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| | galactosemia on Encyclopedia.com |
| | GALACTOSEMIA [galactosemia], inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. | | | The disorder is manifested soon after birth by feeding problems and diarrhea. | | | These ill effects can be prevented by removing milk and all other foods containing galactose and lactose from the diet. |
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http://encyclopedia.infonautics.com/html/g1/galactsem.asp
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| | Galactosemia / Family Village Library |
| | 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. | | | Learn More About It Galactosemia Handbook: A Parents Guide |
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http://www.familyvillage.wisc.edu/lib_gala.htm
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| | Parents of Galactosemic Children, Inc. Home Page |
| | NEW à Participate in a research study when you attend the conference - HERE | | | 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. | | | Submit questions or comments about this web site * HERE * |
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http://www.galactosemia.org
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| | Galactosemics.org - Galactosemia Bracelets |
| | Posted - 05/23/2005 : 10:16:38 AM We got our Galactosemia Awareness Bracelets at the Philly conference and I have to say they are really nice! | | | My kids haven't taken theirs off yet...mind you, only one of them has Galactosemia. | | | Posted - 05/16/2005 : 4:11:12 PM The Galactosemia Awareness Bracelets are royal blue and read..... |
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http://www.galactosemics.org/forums/topic.asp?TOPIC_ID=262
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